Talk:Huntington's disease/Archive 1

Archive 1

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=Initial text

..you should include the namegiver. Actually it was the observation of three geneartion of family physician (necessary because of the usual late onset). The etiology in my opinion is much to early to be stated that firmly (and to much insider deetails) (I am a pharmacologist) — Preceding unsigned comment added by 80.133.109.130 (talk) 18:00, 7 March 2004 (UTC)

The article mentioned incidence was 1 per 200 000, I think it's closer to 1 per 20 000. Blass, Steinberg, Leroi, and Lyketsos have it at 5 to 8 per 100 000 in 2001.(Am J Psychiatry 158:12 p.1968) — Preceding unsigned comment added by 205.211.46.74 (talk) 16:08, 28 October 2004 (UTC)

First gene

"..this is the first time a specific gene is linked to a medical condition." In 1983? I don't think so. The HPRT/Lesch-Nyhan Syndrome was confirmed in 1975. I have an old medical genetics text from 1977 that states albinism "is absence of tyrosinase, or if present its failure to function." I happen to have a 1983 edition of McKusick's Mendelian Inheritance in Man. It lists several specific genes for genetic disease, admittedly mostly on the X chromosome or dominant.

I've taken out the statement. Ted 22:56, 15 April 2006 (UTC)

Maybe it was the first pre-symptomatic gene? Can't find the information at present.

Leevanjackson 23:36, 15 April 2006 (UTC)

The albinism comment is irrelevant, no-one knew where the gene was located, all they knew was that there was an abnormal enzyme in a cell. In the case of Gusella et al, it was the first time that the DNA marker for a defective gene was found, and the work was done on samples from the large poulation of HD sufferers in Venezuela. "Linkage Information. The finding (KanandDozy,1978) and elaboration into doctrine (Botsteinetal., 1980) that DNA polymorphisms (then, restriction fragment linkage polymorphisms, or RFLPs; now,single nucleotide polymorphisms, or SNPs) could be followed as Mendelian alleles in pedigrees led to a great expansion of the density of genetic maps in all organisms so studied. The ability to find such systematically and unambiguously scorable markers linked to inherited traits allowed isolation of genes responsible for these traits (the first being for that for Huntington’s chorea [Gusella et al., 1983]) by DNA walking (Benderetal.,1983). Most human medical genetics still depends on isolation of individual disease genes by this tactic." Brent R, Genomic Biology, Review. Cell, Vol.100,169–183, January7, 2000. Note that this was not the identification of the gene itself, nor of the sequence causing the defect. That came in 1993: "The Huntington's disease (HD) gene has been mapped in 4p16.3 but has eluded identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect. A new gene, IT15, isolated using cloned trapped exons from the target area contains a polymorphic trinucleotide repeat that is expanded and unstable on HD chromosomes. A (CAG)n repeat longer than the normal range was observed on HD chromosomes from all 75 disease families examined, comprising a variety of ethnic backgrounds and 4p16.3 haplotypes. The (CAG)n repeat appears to be located within the coding sequence of a predicted approximately 348 kd protein that is widely expressed but unrelated to any known gene. Thus, the HD mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype." Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-83 (1993). --Seejyb 22:16, 19 July 2006 (UTC)

rejigging headings and order

I am just about to chamge the order of the article to fit the medical template see http://en.wikipedia.org/wiki/Wikipedia:WikiProject_Clinical_medicine/Template_for_medical_conditions no content changes just the sectionsLeevanjackson 12:49, 17 April 2006 (UTC)

The template is not particularly designed for genetic conditions/syndromes. For Huntington's disease, the genetics should be a main heading. Good luck with the project. Ted 12:58, 17 April 2006 (UTC)

For whatever reason, I'm currently watching three genetic diseases/syndrome: Huntington's disease, Turner syndrome, and Down syndrome. Huntington's disease and Down syndrome have History as the first section after the introduction. For Turner syndrome, it is still fairly early. I'm not sure why; just thought I would throw that out. Ted 13:02, 17 April 2006 (UTC)

Thankyou Ted, I'm done for now, the order and headings largley comply now. Your cight about genetics, have left it as a main heading. As for history coming first - it did seem _right_ there, but now its in the style we can see if the style needs changing for conditions etc. well done on all your rc patrols :) Leevanjackson 13:27, 17 April 2006 (UTC)

George Huntington

The intro reads "Ohio physician George Huntington..." but later on in the article it says "George Huntington was one of three generations of medical practitioners in Long Island." Can we clear this up? Akno21 21:03, 05 May 2006 (UTC)

He grew up on Long Island and did all of his observations concerning Huntington disease while observing his father & grandfather's practice. He was a country practioner in Ohio when he first presented his findings. Both statements are probably technically correct, although I don't believe he practiced medicine in New York (or not for long if he did). Ted 01:27, 6 May 2006 (UTC)

a bit more depth is found, http://www.uic.edu/depts/mcne/founders/page0048.html Leevanjackson 11:12, 7 May 2006 (UTC)

The statement is misleading, misrepresenting both the life work of Huntington and the place where all the research was done. Huntington can no more be called an "Ohio physician" than a Japanese doctor from Tokio, who has done all his research and prepared his paper in Tokio, but read the paper while he was studying in New York for 2 years, before going back to spend the rest of his life in Tokio, can be called a "New York" physician.

From Stevenson, Charles S. A Biography of George Huntington, M.D. Bulletin Of The Institute Of The History Of Medicine, The Johns Hopkins University. Ed Henry E. Sigerist, Vol II, Number 2, April, 1934: Huntington was born and grew up in East Hampton, New York, where his father and grandfather had practiced as family physicians. "[He]... graduated from the College of Physicians and Surgeons of Columbia University, New York, in the Spring of 1871. ... during the Summer and Fall of 1871 he made notes preliminary to writing a paper on chorea. He finally wrote out the original draft of his essay and it was carefully revised by his father, whose pencil notes and corrections are seen today on the original manuscript. Late in 1871, young Dr. Huntington went to Pomeroy, Ohio... He took his unpublished article with him, and on February 15, 1872, he read it before the Meigs and Mason Academy of Medicine at Middleport, Ohio. Here it was well received, and so he sent it to the editors of the Medical and Surgical Reporter of Philadelphia, and it was published in this journal in the issue of April 13, 1872. Early in 1782, young Dr. Huntington met Miss Mary Elizabeth Hackard, the daughter of Judge Martin Hackard of Pomeroy. He was struck by her charm, intelligence, and energy, and thus followed a two year courtship, which culminated with their marriage in 1874. By this time the young Doctor had come to realize that Pomeroy was abundantly supplied with physicians, and that the chance for successful competition seemed small, so he took his young bride back to East Hampton with him. It was about this time that he began to suffer from severe attacks of spasmodic asthma, and this disease was gradually to become a more and more important factor in his life. After a few months stay in his native town, the young couple decided that it would be best for them to move to La Grangeville, which is in Dutchess County in the Catskill Mountains of New York. There they were to try their fortunes in life. Accordingly, in the Fall of 1874, they arrived at this town, and the local residents soon began to come with their troubles to the home where hung the bright new sign "George Huntington, M.D." --Seejyb 22:31, 19 July 2006 (UTC)

Clinical trials - no there aren't 100 current and 300 total!

Can someone fix this? If you look at the reference, there are only 9 studies involving HD which are still recruiting and 19 total. The other studies have nothing to do with HD. There have been very few Phase III clinical trials in HD. The only two in the last decade were CoQ10 and remacemide (CARE-HD) and ethyl-EPA (Miraxion).

The search in the text was picking up the location huntington too, will fix Leevanjackson 11:19, 12 May 2006 (UTC)

Image

I don't think the image is really appropriate. A much better choice would be a photo of George Huntington or something related to huntingtin protein (an IHC pic could be nice, for example). Peter Z.^Talk 00:34, 19 June 2006 (UTC)

Why does the image say "your mom" ? 89.233.225.126 23:52, 10 January 2007 (UTC)

Age of onset

"The mean age of onset is 35 to 44 years." references: Hayden M. Huntington's Chorea. Springer-Verlag, Berlin, (1981). and Harper P S. Huntington Disease. WB Saunders, London, (1996)

In response to the quote: "These physical symptoms commonly become noticeable in a person's forties[citation needed], but can occur at any age." A quote from Thompson & Thompson Genetics in Medicine (2007) "The patient's age of disease onset is inversely proportional to the number of HD CAG repeats." pg. 276

I'm no good at citing sources, so here is a to the amazon page with the book: [1] —The preceding unsigned comment was added by 151.197.226.243 (talk) 04:27:33, August 19, 2007 (UTC)

Management of HD

I will post my proposed rewrite tomorrow. Meanwhile note that Haydon et al (in Cell, 2006) could prevent the development of HD in experimental transgenic mice by further mutating the HD gene so that it was resistant to caspase-6, and this mutated-mutated huntingtin, which does not exist in humans at all, did not cause HD in the mice. They deduce that it is the non-breakdown of mutated-mutated huntingtin by this enzyme that prevented HD-like disease in the mice. The inference is that an inhibitor of caspase-6 may prevent HD in humans, but that is far from reality at this stage. The only thing one can say is that inhibition of caspase-6 may prevent the development of HD in humans with "ordinary" mutated huntingtin. What the other effects would be, e.g. since now no cells would be able to utilise caspase-6, is much too early to say. Yet it is good work, and as some-one said, "ground breaking". --Seejyb 22:59, 19 July 2006 (UTC)

The section citing that "Calorie restriction" may postpone onset in HD: ["A calorie restrictive diet delays the onset of symptoms in HD mice.[8]"] is strongly misleading and is opposite the observations in people where weight loss is related to more rapid disease progression. Such as for example the article "Myers RH, Sax DS, Koroshetz WJ, Mastromauro CA, Cupples LA, Kiely DK, Pettengill FK, Bird ED. Factors associated with slow progression in Huntington's disease. Archives of Neurology, 1991;48:800-804." 155.41.190.45 17:33, 31 August 2006 (UTC)–—RMyers

Famous patients?

Is there room (and relevance) for a section on current and historical famous people with Huntington's? MIP | Talk 09:17, 24 July 2006 (UTC)

• there was a section before, but it was incorporated into the history and organisation sections ( woodie guthrie and wexlar). Are there any others you were thinking of in particular? Leevanjackson 11:48, 24 July 2006 (UTC)

I was wondering if there are any retrospective diagnoses that we know of. (By retrospective diagnoses, I refer to situations akin to the academic suggestion that porphyria might have been the cause of George III's 'madness'.)

possibly witch trials amongst them the salem witch trials Leevanjackson 16:47, 24 July 2006 (UTC)

Now that you mention it, I remember reading an article, once, which mentioned Salem and the suggestion of HD or Ergotism. IIRC that article also had some other notables with suspected HD. I'll try to find it again. MIP | Talk 16:59, 24 July 2006 (UTC)

---

If you do this, I strongly suggest making a separate page for famous patients, and only allow additions with a strong citation. Otherwise, it can quickly degenerate to WP:OR. Sandy has done a great job with this on the Tourette syndrome page (see Sociological_and_cultural_aspects_of_Tourette_syndrome#Notable_individuals). Ted^Talk/_{Contributions} 02:25, 25 July 2006 (UTC)

Definitely! When writing something 'from scratch', I usually only choose medical references that are indexed in Medline or published in a speciality reference-book, due to habits created when preparing articles for publication.

I've noticed that many medical articles in Wikipedia have lists of historical figures who speculatively might have had a certain condition, with the same figure often appearing in several lists, as a result of this. Einstein alone is mentioned in at least HA-ADD, Autism, Asperger's and even as dyslexic in the Einstein page. MIP | Talk 13:27, 25 July 2006 (UTC)

Thank you for the kind words, Ted. I had *such* a problem with speculative edits (George W. Bush has TS, dontya know?) before I extensively referenced the notables, and moved them to a separate article, and I've had no problems with speculative edits since. I should mention that the idea came from the very notable Wikiphysician, encephalon. Sandy 13:37, 25 July 2006 (UTC)

British vs American English

This should be more consistent. I'm not working on this, so I won't make a decision as to which one should be used, but it should be more consistent. I can help convert it once that has been decided. Ted^Talk/_{Contributions} 19:19, 30 July 2006 (UTC)

I don't know why people believe that everything has to be one or the other. Give credit to the people who wrote it by retaining their spelling. - Samsara (talk • contribs) 22:19, 30 July 2006 (UTC)

It seems less professional to me, although I suppose I shouldn't be worried about professionalism in Wikipedia, anyway. I fail to see how it gives credit to the original writers ("See the 's'? That's mine!), but OK. It really isn't a big deal. I'll withdraw my suggestion. Ted^Talk/_{Contributions} 01:48, 31 July 2006 (UTC)

Article rating

Should it be a GA or an FA candidate? NCurse _work 11:59, 7 August 2006 (UTC)

I don't believe it is ready for FA. In my experience, GA is useless as a way to improve the article. I'd suggest review first. Those are quite variable, but if we are lucky, the comments will lead to an improved article. Ted^Talk/_{Contributions} 11:05, 10 August 2006 (UTC)

Introduction

I'm no expert, but the introduction seems to have quite a bit of info that doesn't really belong in the introduction. Thoughts? Aaadddaaammm 08:56, 30 August 2006 (UTC)

The peer review suggestions were:At least it should mention that the trinucleotide repeat leads to a polyglutamine region in the huntingtin protein; the prevalence of the disease; the most common/characteristic symptoms; and the fact that it is not curable.

This was in addition to some synonyms, a history of its naming ( george Huntington ), a brief overview of the disease mechanism, the age of onset.

I think maybe the naming could be moved into the history sectio, but the picture of George Huntington would have top be replaced by a more descriptive image - any ideas, maybe the huntingtin protein diagram? Leevanjackson 11:20, 30 August 2006 (UTC)

I don't think the length of the intro is a problem. Looking at the other eponymous diseases, the standard seems to be to list the person honored in the intro. Possibly spliting it into two paragraphs or three paragraphs would help, avoiding a "list-y" introduction. I believe the wiki-standard for an article of this length is 2-3 paragraphs. Does the age of onset really have a Gaussian (capitalized since it is named after Gauss) distribution? I had thought it was not symmetrical.

On a more philosophical point, no genetic disorder is curable (to date). Some are manageable, such as PKU. Many (most?) are not. Of course, the readers of the encyclopedia are not expected to understand that. Ted^Talk/_{Contributions} 12:26, 30 August 2006 (UTC)

OK if you want to get philosophical, we can. Some genetic diseases are curable. Cancer is a genetic disease. It may not usually be an inherited disease, but the cause of cancer is invariably genetic. You could also argue that gene therapy for SCID has cured this genetic disease. Admittedly, the germ line will still carry the genetic disease, and the cure has significant side effects (cancer) but it's still effectively a cure. Aaadddaaammm 07:29, 16 October 2006 (UTC)

Testing Price

The article states the test for determining if a person carries the extra GAC pattern is "tens of thousands" of dollars. Actually, this test is now a few hundred dollars, at most. This is in 2007 dollars. I think the article should be updated. —The preceding unsigned comment was added by 68.4.70.65 (talk) 07:08, 18 March 2007 (UTC).

No, the article is accurate. While the usual gene test itself is only a few hundred dollars (I know, I've done it), the price for embryonic genetic screening and in vitro fertilization, the only way to be sure an at-risk parent does not carry a gene-positive child to term, is still very high. (And it's CAG, not GAC.) —Preceding unsigned comment added by 65.127.122.226 (talk) 14:54, 25 October 2007 (UTC)

Minor edit

I was just here reading and learning. I am writing up a meeting on HD and needed some background. But the bit about the N terminal end was confusing me, so I edited slightly to say that the N-terminal end of the protein and the CAG repeat end of the gene are the same. I assume that's correct. If not, say what it is! Because it was unclear. Also, there was an entry about mice knockins that only had the first exon, but the sentence didn't say it was in mice, so I edited that.

Lastly, I think the last paragraph about the Cell paper results needs to be rewritten in the style of the rest of the article, as it reads now like a Merck press release. I'm sure it was very exciting when it first came out, but it's taking up too much space at this point.

I'd do it myself, but I have to get back to this proceedings, which, by the way, involves more advances on HD. If I don't get back here, please look at the work of Robert Schwarcz, of the Maryland Psychiatric Research Center.

This article is so long and more info is coming. Have you considered splitting it up, so there's a general article, on history and disovery of gene, symptoms, etc, and then a more technical one focused on the mechanism and current research to find a treatment for HD? So much information is being generated by the work of the various HD foundations. Together, they are pumping about $80 milllion a year into research on this one disease. Maybe more. All that information isn't going to fit here.... Eperotao 14:44, 28 March 2007 (UTC)

Mechanism

D666D 22:35, 26 September 2007 (UTC) Any one want to bet that this section was written by one of the authors of the Cell article mentioned, a fan of Dr. Marian DiFiglia, or, more likely, a member of the Merck press team? While this work maybe excelent and highly important, caspase activity can not be the full story of the mechanism(s). Points for discussion should include: excitotoxicity (including NMDA); neurotrophic factors (including BDNF); axonal transport; transcription/translslation; neuronal context (why do some neurones undergo degeneration, while others don't, despite mutant huntingtin being expressed in EVERY cell; synaptic transmission; interneuronal inclusions (whether they may be neurotoxic or neuroprotective may still be unclear; but a discussion of how they may potentially be harmful should be included); Proteosomal overload.

have moved reworked into line with rest of section Leevanjackson 22:10, 13 November 2007 (UTC)

Disagreement on Sharp cut off taken from todo ( prev from peer review)

It would be interesting to expand on the age-of-onset phenomenon, which I think is a matter of interest in popular descriptions of the disease. IIRC [If I Remember Correctly ? Leevanjackson] it has been suggested that the "sharp cutoff" in number of repeats needed to create disease is an effect of human lifespan - ie 30 repeats don't cause disease because the aggregation is slow enough that the person dies before it has a neurodegenerative effect. Unfortunately I can't find the paper I'm thinking of, but here is a related paper that expands on the biophysical origins of the effect.

1. what is this "sharp cut off" point that is mentioned? This is definitly NOT the case. There are two overlapping populations. The normal group with a peak at 16 CAG repeats and the HD group with a peak at 40 CAG repeats, with some overlap around 36 repeats. There is also a mater of instability. Those in the "normal" range show very little instability in repeat length from generation to generation, while those in the HD range and those in the intermediate range, show instability, particularly in paternal transmission (anticipation). (see Harper and Jones, 2003, in Bates et al, 2003: Huntington's disease, 3rd Ed, Oxford Monographs on Medical Genetics).D666D 22:47, 26 September 2007 (UTC)
2. I have found the refernce and summarised in a table which answers this question. LeeVJ (talk) 17:50, 29 April 2008 (UTC)

Epidemiology incongruity

Found this unsigned comment hidden in wring section LeeVJ (talk) 00:47, 8 May 2008 (UTC) There is a incongruity with one of the citations for the article. At the intro, it is stated that HD is a genetic neurological disorder inherited by approximately 3 to 7 per 100,000 people of Western European descent, varying geographically, down to 1 per 1,000,000 of Asian and African descent. It says that this bit of information was retrieved from its source on May 22, 2008. If I am not mistaken, I accessed this article today--that is May 3. Someone ought to check this out.

Have checked it, links to correct article, there must have been a bug with the citation generator - well spotted though! LeeVJ (talk) 22:08, 13 May 2008 (UTC)

GA review

This article generally does a good job covering an important topic on which there is a ton of material, so kudos to the writers. However, I think it does need a thorough copy edit and needs many citations; there are a bunch of sections that are unreferenced. Here are my suggestions. This looks like an awful lot but it's really mostly quick, easy fixes.

1. The following sections have no citation: "Symptoms", "Cognitive", "Mechanism", "Pathophysiology", "Diagnosis", "Management", "Medication", "Social impact", and "Others".

   Good. delldot talk 04:41, 12 August 2008 (UTC)

2. The following paragraphs have no citations: The first paragraph under "Genetics", the second and third under "Inheritance".

   Good. delldot talk 04:41, 12 August 2008 (UTC)

3. I would leave the complicated epidemiology data out of the very first sentence, maybe put it in the second or third. Rather, I'd have the first sentence be about what the disease is like: "Huntington's is characterized by..." That way you could introduce the idea of the varied epidemiology at the beginning of a new sentence: "the number of people varies with ethnicity: 1 in 100,000..."  Done LeeVJ (talk) 23:04, 23 May 2008 (UTC)

   Good. delldot talk 04:41, 12 August 2008 (UTC)

4. "The disorder has been heavily researched in the last few decades" might be a problem per WP:DATED  Done LeeVJ (talk) 22:14, 23 May 2008 (UTC)

   Good. delldot talk 04:41, 12 August 2008 (UTC)

5. "late forties/early fifties" - I would write this out rather than using the slash, and make the spelled out number/numeral thing consistent.  Done LeeVJ (talk) 15:51, 22 May 2008 (UTC)

   Good. delldot talk 04:41, 12 August 2008 (UTC)

6. "usually at around 40-50 years" Use en dashes (–) rather than hyphens (-) for number ranges per WP:DASH. This is a repetition of the 2nd paragraph, too.  Done LeeVJ (talk) 15:54, 22 May 2008 (UTC)

   Good. delldot talk 04:41, 12 August 2008 (UTC)

7. " psychiatric changes, which pre-empt the physical ones, are overlooked" what does this mean? What does it mean to pre-epmt a symptom? Is that how you spell pre-empt? (I really don't know)  Done LeeVJ (talk) 17:24, 22 May 2008 (UTC)

   Good. delldot talk 04:41, 12 August 2008 (UTC)

8. "Physical symptoms are almost always evident" Does this mean "almost everyone with Huntington's gets physical symptoms?" Or something about how obvious the symptoms are? Maybe reword for clarity.  Done LeeVJ (talk) 17:24, 22 May 2008 (UTC)

   Good. delldot talk 04:41, 12 August 2008 (UTC)

9. "cognitive symptoms which can lead to psychopathological problems exhibit differently from person to person." would have a different meaning from "cognitive symptoms, which can lead to psychopathological problems, ..." The former is a more specific type of cognitive problem. Which is it?  Done LeeVJ (talk) 21:16, 22 May 2008 (UTC)

   Good. delldot talk 04:41, 12 August 2008 (UTC)

10. "some uncontrollable movement of the lips, chewing and swallowing (Dysphagia) which commonly causes weight loss" Some can usually be dropped without changing the meaning (see User:Tony1/How to satisfy Criterion 1a: redundancy exercises). Also, "uncontrollable movement of the lips, chewing and swallowing..." doesn't really make sense. Maybe "uncontrollable movement of the lips, problems with chewing and swallowing"?  Done LeeVJ (talk) 22:49, 23 May 2008 (UTC)

    Good. delldot talk 04:41, 12 August 2008 (UTC)

11. "Continence, eating and mobility are extremely difficult if not impossible." Impossible is a strong word. This would require a citation.  Done LeeVJ (talk) 17:36, 22 May 2008 (UTC)

    Good. delldot talk 04:41, 12 August 2008 (UTC)

12. "to date neither of this have been supported". Per WP:DATED, avoid "to date", replacing it with "As of [whenever]".  Done LeeVJ (talk) 15:51, 22 May 2008 (UTC)

    Good. delldot talk 04:41, 12 August 2008 (UTC)

13. I believe citation style calls for a capital letter after a colon in refs.  Done LeeVJ (talk) 15:51, 22 May 2008 (UTC)

    Good. delldot talk 04:41, 12 August 2008 (UTC)

14. "The latter can cause or worsen addictions such as alcoholism and gambling, or hypersexuality." is hypersexuality an addiction? If not, you could have "The latter can cause or worsen hypersexuality or addictions such as alcoholism and gambling." a cite would be good here too ..5  Done cite is left tagged LeeVJ (talk) 01:34, 27 May 2008 (UTC)

    Good. delldot talk 04:41, 12 August 2008 (UTC)

15. Making that table float to the right would reduce whitespace (e.g. in rotavirus).  Done LeeVJ (talk) 15:01, 22 May 2008 (UTC)

    Good. delldot talk 04:41, 12 August 2008 (UTC)

16. Explain or at least wikilink "penetrance". { Done LeeVJ (talk) 18:24, 23 May 2008 (UTC)

    Good. delldot talk 04:41, 12 August 2008 (UTC)

17. "to have an increased mortality, progressively interfering with their functioning." Yeah, I guess dying would interfere with their functioning. :P Also, is there a simpler way to reword this for laypeople?  Done LeeVJ (talk) 17:54, 23 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

18. You can do et al. for >3 or 6 names in a ref per WP:MEDMOS  Done LeeVJ (talk) 15:51, 22 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

19. "Generally, but not always, the greater the number of CAG repeats..." doesn't really fit at the end of that paragraph, maybe you can fit it in the previous one.  Done LeeVJ (talk) 18:24, 23 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

20. Image:Autosomal Dominant Pedigree Chart.svg could stand to be smaller. I'd recommend cropping the image and increasing the size of the text so it's still legible if you make it smaller (it's an svg so this won't be hard. I can do it if you need me to, I like doing junk like that).

     Done What do you think? Actually, I think I may have made the key box too big, I can shrink it and make the elements closer together if you think it's a good idea. delldot talk 07:05, 24 May 2008 (UTC)

    Much better! Still not sure about it's understanability to anyone who doesn't know what it means ! e.g. (I,II,III?) but at least it can be read now ..LeeVJ (talk) 11:34, 25 May 2008 (UTC)

    I don't think it's a problem, but could add clarifications to the caption if necessary. delldot talk 04:41, 12 August 2008 (UTC)

    I can't put my finger on it, I think it's because each of the generations has differing number of possibilities, i.e. 1st gen has five offspring, 2nd then has 2,3,and 4, I think 1st gen have 4, then second have two sets off four one from an affected and one from a wild type, sounds like hassle though and not sure how pedigree charts are usually depicted .LeeVJ (talk) 21:35, 12 August 2008 (UTC)

    User:Medical geneticist has added a description which improves the situation. LeeVJ (talk) 15:04, 18 August 2008 (UTC)

21. "and are finally cleared up in a process called degradation" cleared up?  Done LeeVJ (talk) 17:45, 23 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

22. "The exact mechanism in which mHtt causes or affects the biological processes of DNA replication and programmed cell death (apoptosis) remains unclear, so research is divided into identifying the functioning of Htt, how mHtt differs or interferes with it, and the proteopathic effects of remnants of the protein (known as aggregates) left after degradation." - long and hard to follow. Is there a simpler way to say proteopathic?  Done LeeVJ (talk) 23:59, 23 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

23. " This loss of BDNF may contribute to striatal cell death, which does not follow apoptotic pathways as the neurons appear to die of starvation." Can you reword into simpler terms for the layperson? This section could be fleshed out more anyway. Is this really all there is to say about their function?

    Good delldot talk 04:41, 12 August 2008 (UTC)

24. With mHtt, how are we supposed to deal with starting a sentence with a lower case letter? My instinct would be to reword so it doesn't come first (e.g. "The protein mHtt..." or "The erroneous protein mHtt" if there's an official thing known as an erroneous protein). You may want to look at featured protein articles if there are any to see how they handle the problem.  Done LeeVJ (talk) 20:24, 21 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

25. "polyQ dependent transcription" should probably be "polyQ-dependent transcription". Can you check?  Done LeeVJ (talk) 20:24, 21 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

26. "The aggregates also interact with SP1, thereby preventing it from binding to DNA,the normal functioning of these proteins" Unclear. Maybe "the way proteins normally do" or something.  Done LeeVJ (talk) 20:24, 21 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

27. "Huntington mice models exposed to better husbandry techniques, especially better access to food and water, lived much longer than mice that were not well cared for." Citation needed here. The sentence should say "in a 1998 study..." or some such, since these are findings from a particular study, not something general. A review article that discusses the study should be used, not the study itself.

    This is OK, I think I was being too strict insisting on no primary sources. As I now understand it, some are ok. I think I was also wrong about using "in a 1998 study"; I've since been told that if the source is reliable you can state just the results. So this is fine. delldot talk 04:41, 12 August 2008 (UTC)

    Not sure about this one either , couldn't find a decent ref for it, aside from the fact it's pretty damned obvious that access to correct levels of food, water and ideal environment will positively affect longevity! LeeVJ (talk) 21:35, 12 August 2008 (UTC)

    Ah, found a relevant study <ref name="pmid14999077">{{cite journal |author=Spires TL, Grote HE, Varshney NK, ''et al'' |title=Environmental enrichment rescues protein deficits in a mouse model of Huntington's disease, indicating a possible disease mechanism |journal=[[J. Neurosci.]] |volume=24 |issue=9 |pages=2270–6 |year=2004 |month=March |pmid=14999077 |doi=10.1523/JNEUROSCI.1658-03.2004 |url=http://www.jneurosci.org/cgi/pmidlookup?view=long&pmid=14999077 |issn=}}</ref> so could reinstate statement,maybe. LeeVJ (talk) 13:14, 9 September 2008 (UTC)

28. "This is a significant find for Huntington's." What is a "significant find"? This sounds like opinion, though it's good that there's a ref. Don't know if this sentence adds anything though, without further explanation.  Done LeeVJ (talk) 17:41, 23 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

29. I don't think the paragraph on Juvenile HD belongs in the prognosis section, it's more about symptoms or classification. Could merge with the mention under epidemiology as a last resort; at least this would cut down on repetition.  Done LeeVJ (talk) 23:26, 23 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

30. Is there really only one sentence to be written about medication, in the treatment section? If so, this section should maybe be merged into another one. I would think, though, that more needs to be written here to adequately cover the subject.

    Still very short, is medication just not an important part of treatment? delldot talk 04:41, 12 August 2008 (UTC)

    Hard to find huntington's specifically tested classical medicine, mostly broken down by health service as medicine per symptom as it would be treated on it's own, other's used don't seem to be official endorsed yet, but I am delving, should the drugs used just be listed e.g. drug for psychotic episode, apathy etc. or maybe better if I drag in a summary from each of the symptoms articles... LeeVJ (talk) 21:35, 12 August 2008 (UTC)

31. There are a number of very short paragraphs and sections. These are discouraged and should probably be merged or expanded.

    Improved, but still quite a few. delldot talk 04:41, 12 August 2008 (UTC)

    just started on this one...LeeVJ (talk) 21:35, 12 August 2008 (UTC)

32. " An intracellularly expressed single-chain Fv against the amino-terminal end of mutant huntingtin (mHtt) has been shown to reduce mHtt aggregate formation and increase turnover of the mHtt fragments in tissue culture models of HD." Can the wording be simplified for the lay reader?  Done LeeVJ (talk) 01:00, 27 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

33. "Intensive therapy: A pilot study on July, 2007, of inpatient rehabilitation for the Italian Welfare system, of speech, mind and body showed no motor decline in the two-year study." This needs rewording.  Done LeeVJ (talk) 17:41, 23 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

34. The sentence under "Others" under "Research directions" needs a citation or citations.

    Good delldot talk 04:41, 12 August 2008 (UTC)

35. Any time you have a statistic, it requires a citation. For example, "The prevalence is, on average, between 5 and 8 per 100,000", and "...screening now make it possible (with 99 percent certainty) to have an HD-free child"
36. It looks like there are an awful lot of primary sources, not the best per WP:MEDRS. Be careful when citing trials to be clear that it's a specific study and not general results, and use review articles or other secondary or tertiary sources whenever possible instead.

    Good delldot talk 04:41, 12 August 2008 (UTC)

• find references for all 'citations needed'.

1. Good delldot talk 04:41, 12 August 2008 (UTC)

I have incorporated all the above points regarding missing references here, having tagged sections with 'fact' where required. LeeVJ (talk) 01:34, 27 May 2008 (UTC)

 Done LeeVJ (talk) 16:48, 9 August 2008 (UTC)

I'm failing this for now because I think finding all the needed citations will take more than the week usually allotted for a hold. Please feel free to nominate it again once that has been dealt with, though. I'm glad to give it another look when you want me to to let you know if I think it's ready to go up again. Sorry to be so picky, it really is a very nice article, so I decided to use a very fine toothed comb with the prose. Most of my points are very minor, however the citation needed issues need to get dealt with first and foremost. I'd also recommend having a copy editor look over the article, because there were a bunch of minor wording things that made me think the whole article could use a copy edit. It also looks like some of the areas I pointed out need a little expanding. Please don't hesitate to drop me a note if you need any help or explanation. delldot on a public computer talk 07:18, 21 May 2008 (UTC)

Get down with your bad self Leevanjackson! You're making great progress! delldot talk 07:05, 24 May 2008 (UTC)

thankyou! :) LeeVJ (talk) 21:35, 12 August 2008 (UTC)

Rechecking for new GA review

Update: Leevanjackson's done terrific work, addressing all my concerns from the earlier review. I came across a few more things while re-reviewing (very minor):

• This sentence is a fragment and too technical: Profound neuronal degeneration in the striatum with some additional atrophy of the frontal and temporal cortices. Done
• This sentence is confusing: Testing of a descendant of a person, who is 'at risk', has serious ethical implications because a positive result automatically diagnoses one of the parents. Who is at risk, the parent or the descendant? Everyone's a descendant. Possibly just a comma issue (Testing of a descendant of a person who is 'at risk') but the whole sentence should be reworded. Done
• Only the first word after periods and colons and proper nouns need to be capitalized in article titles.

Not sure about this one, do you mean in the article content? LeeVJ (talk) 22:07, 13 August 2008 (UTC)

• Some refs need to be expanded, e.g. "Achievements of Hereditary Disease Foundation"--publisher needed, as well as date and author if available.

Some of the refs just don't have this info - do I need to find new ones that do ? LeeVJ (talk) 22:07, 13 August 2008 (UTC)

• Confusion with its in the following sentence: The precise way it does this is unknown but a reduction in its level increases neuron cell death and creation, leading to atrophy of areas of the brain. - the first it is mHtt, and the second is BDNF, right?  Done
• Under Social impact, This sentence needs rewriting: Whether or not to have the test for HD Genetic counseling may provide perspective for those at risk of the disease.  Done

Overall, looks great! delldot talk 04:41, 12 August 2008 (UTC)

Article as when this was written [[2]]. LeeVJ (talk) 17:12, 12 January 2009 (UTC)

Just a litte note

Resolved

I have removed the <BR> tags that were present in some places and not others as it makes the article untidily laid out. Hope no one minds.

—Cyclonenim^T@lk? 17:27, 15 August 2008 (UTC)

editing tip

top tip: for comlicated articles use wikied , it highlights syntax grays out comments and refs, leaving article text clear to see... brief installation - works in firefox at least... goto to your wikipedia preferences / gadgets - wikied is listed, just activate it and that's it, hope it helps LeeVJ (talk) 12:09, 28 August 2008 (UTC)

I think you mean WikEd. Personally I recommend 'Display an assessment of an article's quality as part of the page header for each article' which can be found under 'User interface gadgets' in your preferences. Really saves some time! —Cyclonenim (talk · contribs · email) 17:12, 28 August 2008 (UTC)

Yep, I did - your tip will also help - it's great, despite it's catchy name ! :) LeeVJ (talk) 22:32, 28 August 2008 (UTC)

GA Review

This review is transcluded from Talk:Huntington's disease/GA1. The edit link for this section can be used to add comments to the review.

I will be reviewing this article, so please expect a long list of constructive advice below. While I make my recommendations, could I quickly point out the following issues:

•  Done The article currently does not follow the header names suggested by WP:MEDMOS.
•  Done Several references (e.g. 79-84) are not templated. Others lack PMID, DOI or ISBN codes that would help the reader locate the source quickly.

These details have been filled up by numerous editors since review LeeVJ (talk) 15:03, 14 March 2009 (UTC)

•  Done Some sections are very short, suggesting that they should either be expanded or merged with others.

Apart from BDNF which is new. LeeVJ (talk) 15:03, 14 March 2009 (UTC)

Here is the continued review:

Here we go then. I will provide individual comments that are each signed, so it is easy to keep track of what I have had to say and what the response may have been. JFW | T@lk 23:21, 14 August 2008 (UTC)

•  Done General: any hope of more pictures? JFW | T@lk 23:21, 14 August 2008 (UTC)
  • would the ones in the todo list satisfy this? LeeVJ (talk) 23:12, 17 August 2008 (UTC)
    • Yes. JFW | T@lk 23:20, 17 August 2008 (UTC)
      • Global map and molecule will have to wait until they are available, CAG graph when a free image becomes available - or are created from scratch. L∴V 00:04, 2 April 2009 (UTC)
•  Done General: some of the secondary sources used are excellent, yet some sections seem to use primary sources where one would imagine the secondary sources to be able to supply the necessary background. I will flag this up whenever possible. Perhaps bring some of the sources from "Bibliography" into the footnotes apparatus? JFW | T@lk 23:21, 14 August 2008 (UTC) bibliography now incorporated into refs

Garrondo has done an epic job of secondary rerefercing and weeding out unneccesary primaries. L∴V 00:04, 2 April 2009 (UTC)

•  Done General: I was quite surprised to see no mention of Ian McEwan's excellent novel Saturday, in which HD plays a significant role and the literary description he makes is quite accurate. This is definitely not WP:TRIVIA. JFW | T@lk 23:21, 14 August 2008 (UTC)
  • This is listed in the media depictions subarticle, see later point...LeeVJ (talk) 21:13, 19 August 2008 (UTC)
•  Done Intro: perhaps a bit more clinical information (which mental abilities are affected?) and slightly less hard scientific terminology. The intro needs to be as plain as possible, however fascinating CAG repeats are. JFW | T@lk 23:21, 14 August 2008 (UTC)

started LeeVJ (talk) 00:17, 20 October 2008 (UTC)

•  Done Intro: I feel that every statement should be supported by a single source, unless that is genuinely impossible. WP:CITE applies to the entire article, which includes the intro. JFW | T@lk 23:21, 14 August 2008 (UTC)

bar first genetic test which is covered by another pointLeeVJ (talk) 13:23, 26 August 2008 (UTC)

•  Done Signs and symptoms - Intro: comment on the difference between JHD and HD should probably be moved to the physical symptoms section. I have rewritten the section a bit, and the statement can readily be moved. JFW | T@lk 23:21, 14 August 2008 (UTC)
•  Done Signs and symptoms - Physical: when do bradykinesia & dystonia occur? Instead of, or in addition to, the choreatiform movements? Can anything be said about their signifcance, or should they just be mentioned alongside the chorea? JFW | T@lk 23:21, 14 August 2008 (UTC)

Expanded description, think it is clearer now L∴V 00:28, 6 April 2009 (UTC)

• Signs and symptoms - Physical: "slurring of speech" - can anything be said about the nature of the dysarthria? "Slurring" is nonspecific and could be bulbar, ataxic etc. JFW | T@lk 23:21, 14 August 2008 (UTC)

The wording slurring of speech does not appear any more in the article. What is left is "any function that requires muscle control is affected, resulting in physical instability, abnormal facial expression, and difficulties chewing, swallowing and speaking" Is it enough?--Garrondo (talk) 08:18, 2 April 2009 (UTC)

Done √ Sorry missed the question amongst the others - good point in that context I think it's ok L∴V 00:12, 6 April 2009 (UTC)

•  Done Signs and symptoms - Physical: entire section about TP53 is completely off-topic and needs to be moved. The sources are also more than doubtful, and probably fail WP:MEDRS. JFW | T@lk 23:21, 14 August 2008 (UTC)
•  DoneSigns and symptoms - Cognitive: source definitely fails MEDRS. Can't readily comment on the content of the section. JFW | T@lk 23:21, 14 August 2008 (UTC)

now referenced to Lancet. L∴V 01:47, 2 April 2009 (UTC)

•  Done Signs and symptoms - Psychopathological: rename section "psychiatric"? Less confusing, perhaps a bit more confrontational. Are there any good secondary sources here? JFW | T@lk 23:21, 14 August 2008 (UTC)
  • Name changed, refs to come...LeeVJ (talk) 21:13, 19 August 2008 (UTC)
    • Now referenced by Garrondo.L∴V 00:04, 2 April 2009 (UTC)
•  Done Genetics: strong section, not much comments. Do we know why only paternal CAG repeats exhibit expansion and cause anticipation? If not, perhaps we should say that this is unknown. JFW | T@lk 23:21, 14 August 2008 (UTC)

Done: I have added: This occurs because instability is greater in spermatogenesis than oogenesis (obtained from lancet seminar)--Garrondo (talk) 08:18, 2 April 2009 (UTC)

• Mechanism: the Imarisio et al source seems underused. Being a secondary source in a core journal, it looks ideal, although it is unfree. JFW | T@lk 23:21, 14 August 2008 (UTC)

Has been rereferenced, but I don't think anyone has had access to the ref suggested. L∴V 00:30, 2 April 2009 (UTC)

•  Done Mechanism: there are several very short sections that could probably be merged. In general, I would discourage level 4 headers if it can at all be helped. JFW | T@lk 23:21, 14 August 2008 (UTC)
•  Done Mechanism - Degradation: this needs rewriting. In particular, the model needs to be sourced to a secondary source (with optional retention of the most crucial primary sources only), and most of the concepts discussed need to be clarified in lay terms (e.g. "knockin mouse"). It's not easy, but it is crucial for readability. JFW | T@lk 23:21, 14 August 2008 (UTC)

Section has have several copyeditors and reduction in complexity. L∴V 00:30, 2 April 2009 (UTC)

•  Done Mechanism - Other systems: I think this section is irrelevant, unless you can demonstrate that other organs are clinically affected in HD (not to my knowledge). JFW | T@lk 23:21, 14 August 2008 (UTC)

Expanded slightly, does seem to be emerging evidence, but the section might be better placed in research directions. LeeVJ (talk) 16:14, 14 March 2009 (UTC)

Section has been disbanded. L∴V 00:30, 2 April 2009 (UTC)

•  Done Diagnosis: The actual content about counselling before testing, as well as restricting testing in children, has no reference. JFW | T@lk 23:21, 14 August 2008 (UTC)
•  Done Management: Much more can be quoted from the Bonelli & Wenning review with regards to pharmacological treatment options. Just dropping the name of one drug is unhelpful. For instance, are there antipsychotics that also have antichoreatic properties? JFW | T@lk 23:21, 14 August 2008 (UTC)
• Prognosis: some of the clinical content (e.g. heart failure and suicide risk) could possibly be moved to "signs and symptoms". JFW | T@lk 23:21, 14 August 2008 (UTC)
  • Heart failure has moved and suicide risk seems to flow in its current place, so unsure. L∴V 00:30, 2 April 2009 (UTC)
•  Done Social impact: needs tightening, removal of weasel words, referencing. JFW | T@lk 23:21, 14 August 2008 (UTC)
  • References added. Can you specify which "weasel words" you find? Medical geneticist (talk) 18:50, 17 August 2008 (UTC)
    • "Some individuals have chosen" is unsourced; in general, there is much in this section that applies to other genetic diseases also. JFW | T@lk 22:28, 17 August 2008 (UTC)
      • Right, I'll add the reference for the individual preferences. You are correct that much of this applies to other genetic diseases as well -- it's just that HD has been THE paradigm for application of genetic testing, particularly in the presymptomatic, "at-risk" individual. Maybe I'll make that more clear, thanks. Medical geneticist (talk) 22:43, 17 August 2008 (UTC)
        • This section is always tricky to write sympathetically whilst dodging weasel words - I'll give it an ed LeeVJ (talk) 23:12, 17 August 2008 (UTC)
•  Done Epidemiology: some content belongs in the genetics section (e.g. the de novo mutation rate). Is there anything more we can do with the fact that JHD seems to have specific clinical characteristics (as well as having its own eponym)? Move it to the relevant section? JFW | T@lk 23:21, 14 August 2008 (UTC)
•  Done History: needs to be turned into prose, with sources for all presently unsourced landmarks. JFW | T@lk 23:21, 14 August 2008 (UTC)
• Society and culture: why on earth was List of Huntington's disease media depictions split off from here? Turned into prose with the Lancet source this could easily be merged back. I don't think the list of organisations and when they met is encyclopedic. JFW | T@lk 23:21, 14 August 2008 (UTC)
  • Sections turned into prose and put into context, the list of media depictions does seem to have has stemmed the flow of trivial references being added, so further deliberation required. L∴V 00:11, 2 April 2009 (UTC)
•  Done Research directions: will comment at a later date, but I'm certain that this needs secondary sources as a matter of urgency. JFW | T@lk 23:21, 14 August 2008 (UTC)
  • Has been copyedited several times and referenced. L∴V 00:11, 2 April 2009 (UTC)

In conclusion, I think a large amount of work is still needed. I am particularly concerned about the fact that much information is inadequately sourced, and this is going to be an obstactle to GA unless this is addressed. I will try to help out if I can, but I have no access to the most promising secondary sources (the Bates/Harper/Jones book, the Imarisio and the Bonelli papers). Could I also point out a 2007 Lancet Seminar (doi:10.1016/S0140-6736(07)60111-1) that we really must cite prominently. JFW | T@lk 23:21, 14 August 2008 (UTC)

Comments on failing GAC. I feel uneasy about having to fail this once again, because so much excellent work has been done on it. It continues to receive much attention from some very dedicated editors, and I am in little doubt that it will reach GA status in the near future, and probably FA not much later. At present, however, there are some pretty significant impediments to GA. Most of them are outstanding issues that I listed above, such as the diversion into p53 in the "signs and symptoms" section. I'm also a bit surprised that the Lancet review I recommended was not used more often. Please keep me informed of signifant progress, and I will happily provide further input. JFW | T@lk 22:19, 27 August 2008 (UTC)

GA Review

This review is transcluded from Talk:Huntington's disease/GA2. The edit link for this section can be used to add comments to the review.

All of the concerns I brought up in my original GA review have been addressed. However, JFW brought up another set of concerns in the second GA review (archived at Talk:Huntington's disease/GA1 because the original review took place before we were doing that) and there has not been time to address these. Rather than restating them here, I'll refer you to Talk:Huntington's disease/GA1. I urge editors not to renominate this article for GA until the concerns from the second review are dealt with and a consensus has been reached among those who have been working on the article that it should be nominated. However, the article has come a long way and I'm sure it will pass with flying colors once this is the case! Let me know if you have any questions or anything to discuss, I'm always happy to help however I can. delldot ∇. 16:29, 7 September 2008 (UTC)

Last sentence before " Cognitive" moved

I moved the last sentence before " Cognitive" to "Genetics".Bettering the Wiki (talk) 22:20, 6 September 2008 (UTC)

Not sure if it really fits in this section, which is about the basic genetics. Maybe the mechanism/function section would be more appropriate?LeeVJ (talk) 00:21, 7 September 2008 (UTC)

I disagree;while not perfectly, it fits better where it is. We can delete it, but only as a last resort, when all other places we try fail.Bettering the Wiki (talk) 02:52, 7 September 2008 (UTC)

OK, happy to go with your decision....any other opiniios? LeeVJ (talk) 03:27, 7 September 2008 (UTC)

(undent)Nope.Bettering the Wiki (talk) 12:17, 7 September 2008 (UTC)

I need answers

Hi my name is Cheri Agnew and my husband was tested for this disease and came out positive. I have a question about how the cag scores. I understand kind of how it works. Say you your score is a 46 and that is a low number (to me) does this prolong the disease or is it just the same as if it were like 66. Thanks, Cheri Agnew (63.3.4.129 (talk) 17:46, 5 October 2008 (UTC)).

I'm sorry to hear about your husband, but Wikipedia does not give medical advice. --Steven Fruitsmaak (Reply) 17:50, 5 October 2008 (UTC)

Cheri, I find it hard to believe that your husband underwent a test without a proper explanation by a healthcare professional before and after the procedure. The Huntington's article gives a bit of background on the meaning of the test and the importance of proper counseling. Could I strongly suggest you discuss this with your own doctor, and if possible with a clinic geneticist? As Steven rightly points out, Wikipedia does not give medical advice, as any medical advice given by total strangers is not going to be useful and might actually cause you more trouble than it's worth. JFW | T@lk 19:41, 5 October 2008 (UTC)

global prevalence

trying to make a global map of prevalence but can't find a single source covering everything so have to build it up. some notes on different areas

• ( general Western / venezuala/Australia/tasmania) http://www.ahdansw.asn.au/information/faq_prevalence.html - sites its sources!
• Iranian population - free full text http://www.ijhg.com/article.asp?issn=0971-6866;year=2004;volume=10;issue=2;spage=53;epage=57;aulast=Hormozian

GA review

This article generally does a good job covering an important topic on which there is a ton of material, so kudos to the writers. However, I think it does need a thorough copy edit and needs many citations; there are a bunch of sections that are unreferenced. Here are my suggestions. This looks like an awful lot but it's really mostly quick, easy fixes.

1. The following sections have no citation: "Symptoms", "Cognitive", "Mechanism", "Pathophysiology", "Diagnosis", "Management", "Medication", "Social impact", and "Others".

   Good. delldot talk 04:41, 12 August 2008 (UTC)

2. The following paragraphs have no citations: The first paragraph under "Genetics", the second and third under "Inheritance".

   Good. delldot talk 04:41, 12 August 2008 (UTC)

3. I would leave the complicated epidemiology data out of the very first sentence, maybe put it in the second or third. Rather, I'd have the first sentence be about what the disease is like: "Huntington's is characterized by..." That way you could introduce the idea of the varied epidemiology at the beginning of a new sentence: "the number of people varies with ethnicity: 1 in 100,000..."  Done LeeVJ (talk) 23:04, 23 May 2008 (UTC)

   Good. delldot talk 04:41, 12 August 2008 (UTC)

4. "The disorder has been heavily researched in the last few decades" might be a problem per WP:DATED  Done LeeVJ (talk) 22:14, 23 May 2008 (UTC)

   Good. delldot talk 04:41, 12 August 2008 (UTC)

5. "late forties/early fifties" - I would write this out rather than using the slash, and make the spelled out number/numeral thing consistent.  Done LeeVJ (talk) 15:51, 22 May 2008 (UTC)

   Good. delldot talk 04:41, 12 August 2008 (UTC)

6. "usually at around 40-50 years" Use en dashes (–) rather than hyphens (-) for number ranges per WP:DASH. This is a repetition of the 2nd paragraph, too.  Done LeeVJ (talk) 15:54, 22 May 2008 (UTC)

   Good. delldot talk 04:41, 12 August 2008 (UTC)

7. " psychiatric changes, which pre-empt the physical ones, are overlooked" what does this mean? What does it mean to pre-epmt a symptom? Is that how you spell pre-empt? (I really don't know)  Done LeeVJ (talk) 17:24, 22 May 2008 (UTC)

   Good. delldot talk 04:41, 12 August 2008 (UTC)

8. "Physical symptoms are almost always evident" Does this mean "almost everyone with Huntington's gets physical symptoms?" Or something about how obvious the symptoms are? Maybe reword for clarity.  Done LeeVJ (talk) 17:24, 22 May 2008 (UTC)

   Good. delldot talk 04:41, 12 August 2008 (UTC)

9. "cognitive symptoms which can lead to psychopathological problems exhibit differently from person to person." would have a different meaning from "cognitive symptoms, which can lead to psychopathological problems, ..." The former is a more specific type of cognitive problem. Which is it?  Done LeeVJ (talk) 21:16, 22 May 2008 (UTC)

   Good. delldot talk 04:41, 12 August 2008 (UTC)

10. "some uncontrollable movement of the lips, chewing and swallowing (Dysphagia) which commonly causes weight loss" Some can usually be dropped without changing the meaning (see User:Tony1/How to satisfy Criterion 1a: redundancy exercises). Also, "uncontrollable movement of the lips, chewing and swallowing..." doesn't really make sense. Maybe "uncontrollable movement of the lips, problems with chewing and swallowing"?  Done LeeVJ (talk) 22:49, 23 May 2008 (UTC)

    Good. delldot talk 04:41, 12 August 2008 (UTC)

11. "Continence, eating and mobility are extremely difficult if not impossible." Impossible is a strong word. This would require a citation.  Done LeeVJ (talk) 17:36, 22 May 2008 (UTC)

    Good. delldot talk 04:41, 12 August 2008 (UTC)

12. "to date neither of this have been supported". Per WP:DATED, avoid "to date", replacing it with "As of [whenever]".  Done LeeVJ (talk) 15:51, 22 May 2008 (UTC)

    Good. delldot talk 04:41, 12 August 2008 (UTC)

13. I believe citation style calls for a capital letter after a colon in refs.  Done LeeVJ (talk) 15:51, 22 May 2008 (UTC)

    Good. delldot talk 04:41, 12 August 2008 (UTC)

14. "The latter can cause or worsen addictions such as alcoholism and gambling, or hypersexuality." is hypersexuality an addiction? If not, you could have "The latter can cause or worsen hypersexuality or addictions such as alcoholism and gambling." a cite would be good here too ..5  Done cite is left tagged LeeVJ (talk) 01:34, 27 May 2008 (UTC)

    Good. delldot talk 04:41, 12 August 2008 (UTC)

15. Making that table float to the right would reduce whitespace (e.g. in rotavirus).  Done LeeVJ (talk) 15:01, 22 May 2008 (UTC)

    Good. delldot talk 04:41, 12 August 2008 (UTC)

16. Explain or at least wikilink "penetrance". { Done LeeVJ (talk) 18:24, 23 May 2008 (UTC)

    Good. delldot talk 04:41, 12 August 2008 (UTC)

17. "to have an increased mortality, progressively interfering with their functioning." Yeah, I guess dying would interfere with their functioning. :P Also, is there a simpler way to reword this for laypeople?  Done LeeVJ (talk) 17:54, 23 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

18. You can do et al. for >3 or 6 names in a ref per WP:MEDMOS  Done LeeVJ (talk) 15:51, 22 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

19. "Generally, but not always, the greater the number of CAG repeats..." doesn't really fit at the end of that paragraph, maybe you can fit it in the previous one.  Done LeeVJ (talk) 18:24, 23 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

20. Image:Autosomal Dominant Pedigree Chart.svg could stand to be smaller. I'd recommend cropping the image and increasing the size of the text so it's still legible if you make it smaller (it's an svg so this won't be hard. I can do it if you need me to, I like doing junk like that).

     Done What do you think? Actually, I think I may have made the key box too big, I can shrink it and make the elements closer together if you think it's a good idea. delldot talk 07:05, 24 May 2008 (UTC)

    Much better! Still not sure about it's understanability to anyone who doesn't know what it means ! e.g. (I,II,III?) but at least it can be read now ..LeeVJ (talk) 11:34, 25 May 2008 (UTC)

    I don't think it's a problem, but could add clarifications to the caption if necessary. delldot talk 04:41, 12 August 2008 (UTC)

    I can't put my finger on it, I think it's because each of the generations has differing number of possibilities, i.e. 1st gen has five offspring, 2nd then has 2,3,and 4, I think 1st gen have 4, then second have two sets off four one from an affected and one from a wild type, sounds like hassle though and not sure how pedigree charts are usually depicted .LeeVJ (talk) 21:35, 12 August 2008 (UTC)

    User:Medical geneticist has added a description which improves the situation. LeeVJ (talk) 15:04, 18 August 2008 (UTC)

21. "and are finally cleared up in a process called degradation" cleared up?  Done LeeVJ (talk) 17:45, 23 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

22. "The exact mechanism in which mHtt causes or affects the biological processes of DNA replication and programmed cell death (apoptosis) remains unclear, so research is divided into identifying the functioning of Htt, how mHtt differs or interferes with it, and the proteopathic effects of remnants of the protein (known as aggregates) left after degradation." - long and hard to follow. Is there a simpler way to say proteopathic?  Done LeeVJ (talk) 23:59, 23 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

23. " This loss of BDNF may contribute to striatal cell death, which does not follow apoptotic pathways as the neurons appear to die of starvation." Can you reword into simpler terms for the layperson? This section could be fleshed out more anyway. Is this really all there is to say about their function?

    Good delldot talk 04:41, 12 August 2008 (UTC)

24. With mHtt, how are we supposed to deal with starting a sentence with a lower case letter? My instinct would be to reword so it doesn't come first (e.g. "The protein mHtt..." or "The erroneous protein mHtt" if there's an official thing known as an erroneous protein). You may want to look at featured protein articles if there are any to see how they handle the problem.  Done LeeVJ (talk) 20:24, 21 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

25. "polyQ dependent transcription" should probably be "polyQ-dependent transcription". Can you check?  Done LeeVJ (talk) 20:24, 21 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

26. "The aggregates also interact with SP1, thereby preventing it from binding to DNA,the normal functioning of these proteins" Unclear. Maybe "the way proteins normally do" or something.  Done LeeVJ (talk) 20:24, 21 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

27. "Huntington mice models exposed to better husbandry techniques, especially better access to food and water, lived much longer than mice that were not well cared for." Citation needed here. The sentence should say "in a 1998 study..." or some such, since these are findings from a particular study, not something general. A review article that discusses the study should be used, not the study itself.

    This is OK, I think I was being too strict insisting on no primary sources. As I now understand it, some are ok. I think I was also wrong about using "in a 1998 study"; I've since been told that if the source is reliable you can state just the results. So this is fine. delldot talk 04:41, 12 August 2008 (UTC)

    Not sure about this one either , couldn't find a decent ref for it, aside from the fact it's pretty damned obvious that access to correct levels of food, water and ideal environment will positively affect longevity! LeeVJ (talk) 21:35, 12 August 2008 (UTC)

    Ah, found a relevant study <ref name="pmid14999077">{{cite journal |author=Spires TL, Grote HE, Varshney NK, ''et al'' |title=Environmental enrichment rescues protein deficits in a mouse model of Huntington's disease, indicating a possible disease mechanism |journal=[[J. Neurosci.]] |volume=24 |issue=9 |pages=2270–6 |year=2004 |month=March |pmid=14999077 |doi=10.1523/JNEUROSCI.1658-03.2004 |url=http://www.jneurosci.org/cgi/pmidlookup?view=long&pmid=14999077 |issn=}}</ref> so could reinstate statement,maybe. LeeVJ (talk) 13:14, 9 September 2008 (UTC)

28. "This is a significant find for Huntington's." What is a "significant find"? This sounds like opinion, though it's good that there's a ref. Don't know if this sentence adds anything though, without further explanation.  Done LeeVJ (talk) 17:41, 23 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

29. I don't think the paragraph on Juvenile HD belongs in the prognosis section, it's more about symptoms or classification. Could merge with the mention under epidemiology as a last resort; at least this would cut down on repetition.  Done LeeVJ (talk) 23:26, 23 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

30. Is there really only one sentence to be written about medication, in the treatment section? If so, this section should maybe be merged into another one. I would think, though, that more needs to be written here to adequately cover the subject.

    Still very short, is medication just not an important part of treatment? delldot talk 04:41, 12 August 2008 (UTC)

    Hard to find huntington's specifically tested classical medicine, mostly broken down by health service as medicine per symptom as it would be treated on it's own, other's used don't seem to be official endorsed yet, but I am delving, should the drugs used just be listed e.g. drug for psychotic episode, apathy etc. or maybe better if I drag in a summary from each of the symptoms articles... LeeVJ (talk) 21:35, 12 August 2008 (UTC)

31. There are a number of very short paragraphs and sections. These are discouraged and should probably be merged or expanded.

    Improved, but still quite a few. delldot talk 04:41, 12 August 2008 (UTC)

    just started on this one...LeeVJ (talk) 21:35, 12 August 2008 (UTC)

32. " An intracellularly expressed single-chain Fv against the amino-terminal end of mutant huntingtin (mHtt) has been shown to reduce mHtt aggregate formation and increase turnover of the mHtt fragments in tissue culture models of HD." Can the wording be simplified for the lay reader?  Done LeeVJ (talk) 01:00, 27 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

33. "Intensive therapy: A pilot study on July, 2007, of inpatient rehabilitation for the Italian Welfare system, of speech, mind and body showed no motor decline in the two-year study." This needs rewording.  Done LeeVJ (talk) 17:41, 23 May 2008 (UTC)

    Good delldot talk 04:41, 12 August 2008 (UTC)

34. The sentence under "Others" under "Research directions" needs a citation or citations.

    Good delldot talk 04:41, 12 August 2008 (UTC)

35. Any time you have a statistic, it requires a citation. For example, "The prevalence is, on average, between 5 and 8 per 100,000", and "...screening now make it possible (with 99 percent certainty) to have an HD-free child"
36. It looks like there are an awful lot of primary sources, not the best per WP:MEDRS. Be careful when citing trials to be clear that it's a specific study and not general results, and use review articles or other secondary or tertiary sources whenever possible instead.

    Good delldot talk 04:41, 12 August 2008 (UTC)

• find references for all 'citations needed'.

1. Good delldot talk 04:41, 12 August 2008 (UTC)

I have incorporated all the above points regarding missing references here, having tagged sections with 'fact' where required. LeeVJ (talk) 01:34, 27 May 2008 (UTC)

 Done LeeVJ (talk) 16:48, 9 August 2008 (UTC)

I'm failing this for now because I think finding all the needed citations will take more than the week usually allotted for a hold. Please feel free to nominate it again once that has been dealt with, though. I'm glad to give it another look when you want me to to let you know if I think it's ready to go up again. Sorry to be so picky, it really is a very nice article, so I decided to use a very fine toothed comb with the prose. Most of my points are very minor, however the citation needed issues need to get dealt with first and foremost. I'd also recommend having a copy editor look over the article, because there were a bunch of minor wording things that made me think the whole article could use a copy edit. It also looks like some of the areas I pointed out need a little expanding. Please don't hesitate to drop me a note if you need any help or explanation. delldot on a public computer talk 07:18, 21 May 2008 (UTC)

Get down with your bad self Leevanjackson! You're making great progress! delldot talk 07:05, 24 May 2008 (UTC)

thankyou! :) LeeVJ (talk) 21:35, 12 August 2008 (UTC)

Rechecking for new GA review

Update: Leevanjackson's done terrific work, addressing all my concerns from the earlier review. I came across a few more things while re-reviewing (very minor):

• This sentence is a fragment and too technical: Profound neuronal degeneration in the striatum with some additional atrophy of the frontal and temporal cortices. Done
• This sentence is confusing: Testing of a descendant of a person, who is 'at risk', has serious ethical implications because a positive result automatically diagnoses one of the parents. Who is at risk, the parent or the descendant? Everyone's a descendant. Possibly just a comma issue (Testing of a descendant of a person who is 'at risk') but the whole sentence should be reworded. Done
• Only the first word after periods and colons and proper nouns need to be capitalized in article titles.

Not sure about this one, do you mean in the article content? LeeVJ (talk) 22:07, 13 August 2008 (UTC)

• Some refs need to be expanded, e.g. "Achievements of Hereditary Disease Foundation"--publisher needed, as well as date and author if available.

Some of the refs just don't have this info - do I need to find new ones that do ? LeeVJ (talk) 22:07, 13 August 2008 (UTC)

• Confusion with its in the following sentence: The precise way it does this is unknown but a reduction in its level increases neuron cell death and creation, leading to atrophy of areas of the brain. - the first it is mHtt, and the second is BDNF, right?  Done
• Under Social impact, This sentence needs rewriting: Whether or not to have the test for HD Genetic counseling may provide perspective for those at risk of the disease.  Done

Overall, looks great! delldot talk 04:41, 12 August 2008 (UTC)

Article as when this was written [[3]]. LeeVJ (talk) 17:12, 12 January 2009 (UTC)

Research directions proposal

As some would have already seen I have decided to pop in the article due to it being a MCOTW; I hope I am not the only one... :-)

Is my experience that these sections tend to atract and infinite number of primary studies; getting bulkier as time passes (as it is occurring in this article. It has been of use in several articles which have finally become FA to create a subarticle were any publication in the disease research could be added while leaving in the main article only some examples that gave an overview of the research directions See for example Multiple sclerosis or Alzheimer's Disease.

I post here a summary proposal of the section. I think that it would be a good idea to move the full section as it exists right now to a secondary article (Therapies under investigation for Huntington's disease), leaving in the main article a summary similar to the one I propose; and leaving a "Main article..." Redirect. Opinions?

Here is my proposal

As of August 2008, several trials of various compounds were in development or ongoing, a few at the point of testing on larger numbers of people, known as phase III of clinical trials. Substances that have shown promise in initial experiments include dopamine receptor blockers, select dopamine antagonists, such as tetrabenazine, creatine, CoQ10, the antibiotic Minocycline, antioxidant-containing foods and nutrients, and antidepressants, including selective serotonin reuptake inhibitors such as sertraline, fluoxetine, and paroxetine.

Most research is conducted in animals. Appropriate animal models are critical for understanding the fundamental mechanisms causing the disease and for supporting the early stages of drug development. Neurochemically induced mice or monkeys were first available, but they did not mimic the progressive features of the disease. After the HD gene was discovered, transgenic animals exhibiting HD were generated by inserting a CAG repeat expansion into their genome, these were of mice,), Drosophila fruit flies, and more recently monkeys. Expression without insertion of a DNA repeat in nematode worms also produced a valuable model. Genetically engineered intracellular antibody fragments called intrabodies have shown therapeutic results preventing larval and pupal mortality in drosophila models. Their mechanism of action was an inhibition of mHtt aggregation, As HD has been conclusively linked to a single gene, gene silencing is potentially possible. Researchers have investigated using gene knockdown of mHTT in mice as a potential treatment; however there are important practical difficulties for the use of such techniques in humans. Stem cell therapy is the replacement of damaged neurons by transplantation of stem cells into affected regions of the brain. Experiments have yielded some positive results in animal models, but remains highly speculative and has not been tested in clinical trials.

Bests regards to everybody.--Garrondo (talk) 17:39, 13 March 2009 (UTC)

I'm hoping to get some time this weekend to join in - I was busy looking for images whilst you were applying numerous edits! A previous editor suggested this too, and the research is more extensive than a section can hold, not to mention a volatile research section would be better served seperately, leaving the main article to stabalise - in short support. LeeVJ (talk) 01:09, 14 March 2009 (UTC)

I was also wandering how much of this research is common to other repeat expansions for a shared reasearch article, and if it was apt to include expression of a triplet repeat expansion in a plant [4] which could aid in reasearch? although this is very recent. LeeVJ (talk) 01:09, 14 March 2009 (UTC)

As a main contributor has agreed I'll go for it. Bests. --Garrondo (talk) 08:20, 16 March 2009 (UTC)

Garrondo has completed this mission, the section can now develop into something more readable without having to cover every aspect - any industrial spam will more likely end up on the subpage and it can also go into greater detail, many thanks Garrondo! L∴V 13:58, 16 March 2009 (UTC)

Copyedit

I've given this a full copyedit and done some MOS cleanup. I am fairly clueful but certainly not a medical expert; hope I haven't botched anything. I left a handful of inline comments where I couldn't suss out the intended meaning. In my opinion this is not far from GA. Maralia (talk) 20:54, 15 March 2009 (UTC)

Looks good to me - it never fails to surprise me the little oversights that get spotted by a fresh pair of eyes :) LeeVJ (talk) 23:52, 15 March 2009 (UTC)

I have fixed the issues you pointed out, many thanks LeeVJ (talk) 00:37, 16 March 2009 (UTC)

Thanks, nice to get such a fast response! There are a few minor things remaining, including a couple unaddressed inline comments (I know it's hard to find them amidst the DOI bot notes, so here's specific text for searching):

• <!--This sentence doesn't really parse-->
• <!--needs clarification: which of these are the 'such as'?-->

The only other issue is that Huntingtin is inconsistently capitalized; I suspect it's appropriate to capitalize it, but wasn't sure, and there are a few instances where it is uncapitalized. Thanks again. Maralia (talk) 03:03, 16 March 2009 (UTC)

Ooops, sorry missed those :( Have addressed them now, as for capitalisation seems a bit of a grey area - as far as I know it seems if it's the gene its uppercase -'Huntingtin', if it's a product of the gene ( i.e. the protein) its lower-case -'huntingtin', I think I looked at before but could find no definate anser -( for the abbreviations HTT vs Htt and mHtt ). L∴V 14:39, 16 March 2009 (UTC)

Another proposal

The society and culture section is quite disorganized. My proposal would be to create 3 diferent subsections:

• 1-Social impact (Same as now)
• 2-Support organizations: It would integrate awareness days and organizations (See proposal below)
• 3-Media depictions (two lines on depictions)

My proposal for the support organizations section is as follows:

In 1968, after experiencing HD in his wife's family, Dr. Milton Wexler was inspired to start the Hereditary Disease Foundation. His daughter, Nancy S. Wexler, was a key part of the research team in Venezuela and is the current president of the Foundation. A year before Woody Guthrie's wife, Marjorie, had helped to found the Committee to Combat Huntington's Disease, after his death from HD complications. This eventually became the Huntington's Disease Society of America. Since then, lay organizations have been formed in many countries around the world and have helped to increase the awareness on HD. Many support organizations hold an annual HD awareness event, and some have been endorsed by their respective governments, for example, June 6 is designated "National Huntington's Disease Awareness Day" by the US senate, and the UK HDA holds an awareness campaign in the third week of June. International biennial meetings are also held by these organizations.

Comments?--Garrondo (talk) 15:00, 16 March 2009 (UTC)

Support - You beat me to it :) Comments: I was hoping to put better context to this but it is hard to find information about them - I have started a draught lay organisation, as it seems to be missing. If the HDF was started by 'Hereditary Disease Foundation to gather young scientists from different disciplines and institutions' [5] I am wandering if it is not infact a professional organisation, also many professionals attend/spponsor the biannual meetings. L∴V 17:33, 16 March 2009 (UTC)

I have not looked for refs on these organizations; simply rewritten the section, so I am not completely sure if it is factually correct. However as I have written it we do not say if it is a proffesional support organization or a lay one.--Garrondo (talk) 08:00, 17 March 2009 (UTC)

Lancet seminar

The last two days I feel I have entered a bit of a wikirage; and I want to explain my last editions. I have been reading the lancet seminar since it is probably the best general secondary source we have; with a double aim. I plan to factually check every sentence of the WP article and add a ref to the lancet seminar if it is backed up by it; so we are sure that every sentence is factually correct. I also plan to add any info I find in the lancet article that is not present at the moment in the WP article if it seems important enough. This factual checking will help to eliminate some of the primary sources used and would probably be enough to get the article to GA status. Bests. --Garrondo (talk) 14:58, 18 March 2009 (UTC)

There was a bit of a reference overload before, wasn't there! L∴V 11:10, 19 March 2009 (UTC)

I disagree with moving the Social Impact section to "Society and Culture"

I saw the recent move of some of the ethical considerations (Social Impact) to the Society and Culture subheading. While I understand that this is a standard category for MEDMOS, the thrust of that section has nothing to do with the pop-culture aspects and is completely out of context in that section. It's actually quite a non-sequiter to have it in the same section as Arlo Guthrie and "Alice's Restaurant". I'm sure that the change was well-meaning, but IMHO misguided. I would suggest instead that this section go under a different subheading titled "Ethical Considerations". Medical geneticist (talk) 02:00, 22 August 2008 (UTC)

It was me who moved it per MEDMOS. Precisely the intention of the last revision of MEDMOS was to reduce the Pop culture sections and really create a section which had important society things to tell, and if you think about it and just look into the titles a title like social impact should clearly be inside a section called society and culture. It does not have sense to have a separate section. As an example take a look at the Alzheimer's disease society and culture section. I talks about the caregiver burden, economic aspects and also a minor "pop culture" subsection. The alzheimer disease will quite surely become a FA and in its revision everybody has agreed in such section. Similarly AIDS which formerly was a FA and it is still a very good article has in its section of society stigma, economic impact and denialism of AIDS, and no pop culture section in the whole article. Finally I only one to say that if you revert it I won't fight (at least until I get heavily involved with this article) even if I believe it is the correct place for the section. Best regards. --Garrondo (talk) 07:02, 22 August 2008 (UTC)

Like I said, I understand the MEDMOS recommendations, I just think that the implementation in this case is not well executed. It takes something unique about Huntington's disease (i.e. the absolutely fundamental impact this disorder has had on ethics in genetic testing) and buries it in what is now a very strangely organized section. You cite good examples of diseases (Alzheimer's and AIDS) that have a huge impact on society as a whole, where discussion of these issues in that context makes sense. There are certainly analogous issues in HD (stigma, cost of care, impact on insurability etc.) that could be discussed in this section but perhaps the ethical aspects of genetic testing could be moved to a different subsection (not sure where) on the "impact on medical genetics" or something like that. I'm not going to revert your edits, I'll just see if Lee has any strong feelings on the subject. Medical geneticist (talk) 01:31, 23 August 2008 (UTC)

The society and impact section has always been a bit 'messy' and deserves a rewrite - I split off media depictions to stem the flow. A while ago I tried to put the point across about HD being a pivotal stage in genetic testing and ethics, but was unable, at the time, to find decent references and write it in a NPOV way. If you are saying that this is the case from a medgen point of view, then this is a very important part of the article, with better coverage in the lead - probably it's own paragraph! So in conclusion I agree with both of you, I think this is the right section, but the section as it reads now is too 'tucked away', the whole article should be interesting reading and with the important section research directions following it, history preceding, this tail end of the article can be made much stronger. Do you have any ideas MedicalGeneticist, where the best overview of genetics that might put the HD issue in perspective of the field is- it seems to be taken as read rather than stated where I have seen LeeVJ (talk) 11:19, 23 August 2008 (UTC)

Accuracy and presentation of data

I do think this is generally a very good article, but the presentation of the research in HD is not great. The 'Degradation' section is downright wrong -- it suggests 'a little knowledge' or just reading a couple of articles and misinterpreting them, rather than reading about the area. Uncleaved fragments of mHTT aren't called aggregates. The coalescence of mHTT fragments is thought to form 'protofilmanets' which further coalesce (aggregate) to form inclusions. Inclusions can be nuclear OR cytoplasmic (where they are sometimes called aggregates) and toxicity has been demonstrated with BOTH! This section contains outright contradictions -- "...unprocessed pieces are called aggregates..."; "aggregates consist mainly of the amino terminal end of mHtt" (the second statement is correct). There is plenty of data suggesting a direct correlation between the presence of inclusions and toxicity, however, whether the inclusions themselves are toxic is a different matter and there is also plenty of evidence suggesting that inclusions are cytoprotective.

The 'Mechanism' section in general seems rather weak. Which 'mechanism' is being referred to?

"Like all proteins, Htt and mHtt are translated, perform or affect biological functioning, and are finally dissolved in a process called biodegradation." No. The intracellular removal of functionally redundant proteins is not biodegradation. Proteins are removed via the ubiquitin-proteasome system, a vital system whose dysregulation as a consequence of aggregated mHTT is thought to be a possible source of cellular toxicity in HD. Also I've never seen anywhere the suggestion that HTT is involved in DNA replication.

I realise that a line has to be drawn as to how much detail is gone in to. HD pathology is vastly complex and poorly understood, but the different theories on its mechanisms and the arguments for and against them could be better presented. For good recent reviews, see Imarisio et al, Biochem. J., 2008;412:191-209 (This group is primarily interested in 'autophagy' and HD, so in the interests of a balanced opinion...) and Orr & Zoghbi, Annu Rev Neurosci. 2007;30:575-621.

(Should I be putting this in a bulleted list instead?!) Matstuff (talk) 10:47, 27 August 2008 (UTC)

Thankyou for the analysisand pointers to refs...your previous post wasn't overlooked - just got waylayed in improving the current refs and other GA stuff - in which I included a note pointing it out... The current sections are an artifact of past good faith edits citing primary sources alone and transclusions of huntingtin protein and gen articles, so does need a good work out - please feel free to edit anything! I have recently got hold of the Lancet seminar, and am trying for the Imariso et al ref and will add the neuroscience one to my list ... LeeVJ (talk) 12:54, 27 August 2008 (UTC)

There have been several copyedits and checks on references, most of the information ties in with a Lancet review so I think this issue has been addressed, but if anyone has any further corrections... L∴V 01:53, 2 April 2009 (UTC)

Archive 1

Archive 2

Archive 3

Archive 4

Possible useful comments from archives

Extended content

I recopy these 3 comments from archive 2; since they will probably be useful in the future as recurrent questions. Bests.--Garrondo (talk) 11:42, 17 August 2009 (UTC) Article Title - Huntington's Disease vs Huntington Disease I was very surprised to see this page titled "Huntington's Disease", rather than "Huntington Disease". This is a significant error that should be addressed - the disease was named after George Huntington, but it does not 'belong' to him - therefore, the use of "'s" is incorrect. This is a fundamental principle of disease and syndrome nomenclature, not just my opinion (see [6] if you need convincing) - although this mistake is frequently made, even in scientific and medical publications (and not just on Wikipedia!). I strongly recommend that the article is re-named "Huntington Disease" and that "Huntington's Disease", "Huntington's Chorea" and "Huntington Chorea" are all disambiguated to the new name. Cjones586 (talk) 14:19, 9 January 2009 (UTC) Per Wikipedia:Manual_of_Style_(medicine-related_articles)#Naming_conventions, we use ICD-10 in most cases, and the World Health Organization uses the possessive. --Arcadian (talk) 06:11, 10 January 2009 (UTC) Unless otherwise will probably be fixed in ICD-11, but that isn't due out for a few more years yet. L∴V (talk) 12:35, 11 March 2009 (UTC) In my opinion, the posessive is the British convention and the form is the American convention. Neither can be considered an error. Andrew Nielsen (talk) 07:16, 19 November 2010 (UTC) The use of the possessive is accepted practise for many diseases. To call it a significant error is either bigotry or ignorance. Neither can be a reason for changing the title. Usage of HTT for gene, HTT for protein and mHTT for mutant form of protein Hi Lee- really nice work on the HD article by the way. I stopped by today to make some scattered revisions particularly on the genetics parts. One thing I noticed is the gene symbol/protein symbol issue (discussed here[7]). I switched the gene name to all-caps italics wherever I saw it and the protein name to all-caps non-italics. To my best knowledge, this is the "proper" way to distinguish gene names and protein names. What I don't know is how the mutant protein is designated (mHtt or mHTT). My guess is you can find examples of both usages, but probably mHTT is more consistent with the typical protein designations in humans (as opposed to mouse, where the gene is Htt and the protein is Htt). Thankyou :) When I looked into it a year ago, there didn't seem to be a concensus in journals etc, but what I did get the gist of was that genes where capitalised, and proteins they produced weren't i.e. HTT the gene, Htt the protein, seemed right so I stopped looking into it. As for mhtt makes sense to me that since it is actually a form of Htt it is just a lower case 'm' denoting 'essentiall htt but altered' also seems right - but I have been known to be wrong! L∴V (talk) 00:02, 14 August 2008 (UTC) Are there other sections that you think could benefit from additional work? I'd be happy to help you get this one GA status. Medical geneticist (talk) 22:38, 13 August 2008 (UTC) Great! Your copyedits and additions have already been magnificient! As for GA there are a couple of trickies - full details for the citations and some of the short sections. I've reduced the technical jargon over time to something readable and understandable (hopefully) but some of them now need expanding on! An essential piece mentioned yonks ago in peer review that would add help start rounding off the article is about DNA replication! Someone asked about how dna had problems replicating long sequences, ie.e cleavage points and such, but I got lost in translation ;( (sorry) I think they meant for the protein generation - initially I was looking at how the repeat expansion can change as it is passed on, but I think both would be an excellent addition...if there are two functions, like I said I got a bit lost which is why the other wiki articles still need some work! L∴V (talk) 00:02, 14 August 2008 (UTC) Capitalization of huntingtin Huntingtin is inconsistently capitalized; I suspect it's appropriate to capitalize it, but wasn't sure, and there are a few instances where it is uncapitalized ( Maralia (talk) 03:03, 16 March 2009 (UTC) ) As far as I know it seems if it's the gene its uppercase -'Huntingtin', if it's a product of the gene ( i.e. the protein) its lower-case -'huntingtin', I think I looked at before but could find no definate answer. L∴V 14:39, 16 March 2009 (UTC) I've applied the following rule for now 'for consistency - Capitalisaztion of Huntingtin gene, lower case for protein whilst avoiding 'huntingtin protein' which could be either'. On a cursory search got scared - [8] as when you say huntingtin protein you could mean 'protein product of Huntingtin' or simply 'the huntingtin protein', seems there are conventions vary for species too, then I briefly thought about the capitalisaztion of article titles, that's when I ran away. L∴V 14:18, 3 April 2009 (UTC) There should be an explanation for the inconsistent spelling. — Preceding unsigned comment added by 219.89.53.194 (talk) 08:56, 14 May 2012 (UTC) Move to Huntington disease This was re-discussed in 2016 and the consensus was to keep the article as Huntington's disease. Dubbinu | t | c 18:41, 13 June 2016 (UTC) Name 'Huntington's chorea' was noted to be defunct. Dubbinu | t | c 18:41, 13 June 2016 (UTC)

Protein naming convention

Per widely-agreed convention, human gene symbols are written in italic caps (HTT) and human proteins non-italic caps (HTT). Mutant huntingtin should be mHTT. Mouse huntingtin should be Htt for the gene and HTT for the protein. This article is pretty good on the gene symbol but the protein is written Htt throughout. I see that this was done after a talk page discussion in 2010 but that discussion seems to have missed the consensus recommendations of the HUGO Gene Nomenclature Committee. My memory is vague but I think the current system may have been adopted since then. In any event the one on the Gene_nomenclature page is the one that's universally accepted. Is there a reason not to change the HD article to match the convention? Dubbin^{u | t | c} 18:03, 13 June 2016 (UTC)

Done Dubbin^{u | t | c} 08:14, 14 June 2016 (UTC)

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Thanks, User:Cyberbot II. The citation you highlighted is not really suitable for the article, so I've added a better citation that meets WP:MEDRS and edited the text accordingly. I found another passage that relied on a primary source too, and removed that. Dubbin^u | t | 

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A discussion is taking place as to whether the article HDBuzz is suitable for inclusion in Wikipedia according to Wikipedia's policies and guidelines or whether it should be deleted.

The article will be discussed at Wikipedia:Articles for deletion/HDBuzz until a consensus is reached, and anyone is welcome to contribute to the discussion. The nomination will explain the policies and guidelines which are of concern. The discussion focuses on high-quality evidence and our policies and guidelines.

Users may edit the article during the discussion, including to improve the article to address concerns raised in the discussion. However, do not remove the article-for-deletion notice from the top of the article.Braydonowen (talk) 07:45, 28 August 2016 (UTC)

External links modified

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External links modified

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I have just modified one external link on Huntington's disease. Please take a moment to review my edit. If you have any questions, or need the bot to ignore the links, or the page altogether, please visit this simple FaQ for additional information. I made the following changes:

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Not sure why this list?

Carlson, Neil R., and Melissa A. Birkett. Physiology of behavior. 11th ed., Pearson, 2013.

Ross, C., & Tabrizi, S. (2010, December 14). Huntingtons disease: from molecular pathogenesis to Clinical Treatment Retrieved November 27, 2017, from http://www.bing.com/cr?IG=F7C15F08B1A34F4E8D52D72F6B203705&CID=0E443F76AE0C673307453431AF0A668C&rd=1&h=Ph1NuvLfnac1O5X3qbBRHeolVhoXJtWu3p_zTA8zgaM&v=1&r=http%3a%2f%2fwww.thelancet.com%2fjournals%2flaneur%2farticle%2fPIIS1474-4422(10)70245-3%2fabstract&p=DevEx,5069.1

Roos, Raymund AC. “Huntington's disease: a clinical review.” Orphanet Journal of Rare Diseases, BioMed Central, 20 Dec. 2010, ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-40.

Labbadia, J., & Morimoto, R. I. (2013). Huntington’s disease: underlying molecular mechanisms and emerging concepts. Trends in Biochemical Sciences, 38(8), 378–385. http://doi.org/10.1016/j.tibs.2013.05.003

Kobal, Jan, et al. “Cognitive and autonomic dysfunction in presymptomatic and early Huntington's disease.” SpringerLink, Springer Berlin Heidelberg, 2 Apr. 2014, link.springer.com/article/10.1007/s00415-014-7319-6.

“Chorea & Huntington's Disease.” Chorea & Huntington's Disease, International Parkinson and Movement Disorder Society, www.movementdisorders.org/MDS/About/Movement-Disorder-Overviews/Chorea--Huntingtons-Disease.htm.

Vaughn, Lewis. Bioethics: principles, issues, and cases. 2nd ed., Oxford University Press, 2013.

Doc James (talk · contribs · email) 21:08, 10 December 2017 (UTC)

CAG length

Genetic testing of healthy volunteers showed to humans have an average CAG length of 17.

It has been demonstrated a causal link exists between CAG length and the amount of grey matter in the brain. This has led to the speculation that the slow drift in CAG length, in one direction, is responsible for the increase in brain size noticed since the time of "Lucy" 2 million years ago. — Preceding unsigned comment added by MWS (talk • contribs) 16:41, 9 July 2017 (UTC)

The table says 26 is the highest normal value, but the text said 36 is the highest normal value. I deeply resent some cancel bot restoring an obvious contradiction in the article, but lets anything go in talk tab. I love copy-editing text. No more unless you pay me. — Preceding unsigned comment added by MWS (talk • contribs) 03:08, 23 Dd peocember 2017 (UTC)

Is it a contradiction? I think the text is saying that generally people are in the "normal" or "intermediate" ranges, which is not the same as saying "36 is the highest normal value".

26 to 36 is normal and elevated isk. not normal and no risk. — Preceding unsigned comment added by 64.183.200.94 (talk)

Remember to sign contributions to talk pages, or it gets confusing to see who said what. Ttwaring (talk) 14:39, 23 December 2017 (UTC)

i use ip instead of name. name is egotistical and pointless.

I have 30 and 43. My dad gave me 30 and resisted test. He committed suicide age 76. I am a rare person with full from mom and elevated from dad. I am sure it was HD.

It is hard to get accurate test numbers, depending on careul test prep. Hopeul by claims ov 98% accuracy, I was tested at age 42 and married months later. Until age 52, when neuro symptoms became blatant, I went to disability. Now at age 57, I am in a nursing home. — Preceding unsigned comment added by 64.183.200.94 (talk)

10% new mutation?

Had it not been for a Yahoo comment on a recent HD article, I never would have known to check this article.

Where did we get the line "HD is typically inherited from a person's parents, with 10% of cases due to a new mutation."? The posted source doesn't show me anything other than more click bait. I would love to have a direct link, or see a copy-n-paste of the text.73.79.233.100 (talk) 14:33, 12 December 2017 (UTC)

it was first added with this edit - https://en.wikipedia.org/w/index.php?title=Huntington%27s_disease&diff=next&oldid=730545689 on 19:08, 19 July 2016 73.79.233.100 (talk) 14:47, 12 December 2017 (UTC)

and none of the major sites reference non-inherited instances http://hdsa.org/what-is-hd/ https://medlineplus.gov/huntingtonsdisease.html https://www.medicinenet.com/huntington_disease/article.htm https://ghr.nlm.nih.gov/condition/huntington-disease# https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117 73.79.233.100 (talk) 15:03, 12 December 2017 (UTC)

Source says "Although most patients with HD have an affected parent, up to 10% of cases may result from new expansions into the disease range."[9]

So not sure what the issue? Doc James (talk · contribs · email) 17:00, 18 December 2017 (UTC)

Not sure what is going on? Can User:MWS explain? Doc James (talk · contribs · email) 23:59, 23 December 2017 (UTC)

The test is 24 years old. 10% mutation may mean parents had the mutation and died due to something else; or no ancestry. MWS (talk) 00:13, 25 December 2017 (UTC)MWS

ON another subject; Ulcerative colitis was thought to be psychosomatic. Scott Peck proudly gave some woman hell, in "The Road Less Travelled.' Now we know better. When doctors dabble in science, they get it wrong. — Preceding unsigned comment added by 64.183.200.94 (talk) 22:09, 24 December 2017 (UTC)

The ref is from a major journal from 2015. Doc James (talk · contribs · email) 03:09, 25 December 2017 (UTC)

26 versus 36

User:MWS

The ref says "The gene for Huntington's disease (HD) is located on the short arm of chromosome four and is associated with an expanded trinucleotide repeat. Normal alleles at this site contain CAG repeats, but when these repeats reach 41 or more the disease is fully penetrant. Incomplete penetrance happens with 36–40 repeats, and 35 or less are not associated with the disorder. "

Which appears to support "However, a sequence of 36 or more glutamines results in the production of a protein which has different characteristics."

Doc James (talk · contribs · email) 00:00, 25 December 2017 (UTC)

yes Doc James reasoning is in agreement with the text/source--Ozzie10aaaa (talk) 13:37, 25 December 2017 (UTC)

Copyright violation?

Many attached docs are copyrighted. This needs fixing.SchaPhD (talk) 15:42, 2 January 2018 (UTC)

What do you mean by "attached docs" in this context? Ttwaring (talk) 17:25, 2 January 2018 (UTC)

Gap at top of article

I can't seem to eradicate the gap (blank whitespace) ahead of the beginning text of the article. I've attempted a couple of things but they have not removed the gap in edit preview. I'm hesitant to save incremental attempts since this is a featured article. Ponydepression (talk) 18:41, 26 January 2018 (UTC)

I got rid of it. It was a result of blank lines at the beginning. Looie496 (talk) 01:11, 27 January 2018 (UTC)

Average CAG repeat

In a genetic test, given to healthy volunteers at the University of Iowa (itself a HD center of excellence by the HDSA), the average CAG repeat was 17.PhDMarkWilliamSchae1960 (talk) 16:44, 20 September 2018 (UTC)

References

Saint Vitus round 2

In Spanish and French I've seen Huntington, along Sydenham's chorea, referred both as Saint Vitus disease. I thought it is the case also in English, could you confirm? I have found this [10] Sydenham's chorea and Huntington disease were confused under the same banner of St. Vitus dance. --MaoGo (talk) 21:22, 3 February 2019 (UTC)

User:MaoGo sure turn it into a disambig. Doc James (talk · contribs · email) 16:08, 4 February 2019 (UTC)

@Doc James: there is already Saint Vitus dance that redirects to Sydenham chorea. Should I proceed anyway? --MaoGo (talk) 16:12, 4 February 2019 (UTC)

Have adjusted that aswell Doc James (talk · contribs · email) 16:13, 4 February 2019 (UTC)

@Doc James: maybe Saint Vitus dance should be the main article/disambiguation page. --MaoGo (talk) 16:19, 4 February 2019 (UTC)

Sure Doc James (talk · contribs · email) 16:25, 4 February 2019 (UTC)

@Doc James: now we have this problem: Wikipedia_talk:WikiProject_Disambiguation#Huntington_and_Saint_Vitus_dance. --MaoGo (talk) 16:44, 4 February 2019 (UTC)

Just merge the two now.

Done Doc James (talk · contribs · email) 16:46, 4 February 2019 (UTC)

Eliminating Saint Vitus's tag

To avoid WP:3REVERT, please discuss why you do not think the Saint Vitus's dance name should be in the article. It was based on a consensus. @Meanmicio: @Spyder212:. --MaoGo (talk) 07:11, 5 March 2019 (UTC)

I was not aware of this discussion on the talk page concerning St-Vitus dance. Just happened to notice this inconsistency in the article and was bold by constructively removing it. After a quick search, I notice that most reliable sources used the term historically to describe Sydenham's chorea, including the International Parkinson and Movement Disorder Society. Some other sources I have found used St Vitus dance to refer to chorea in general or even to refer to epileptic generalized seizures. As for the 3RR, I will add its definition here: "An editor must not perform more than three reverts on a single page—whether involving the same or different material—within a 24-hour period. An edit or a series of consecutive edits that undoes other editors' actions—whether in whole or in part—counts as a revert. Violations of the rule often attract blocks of at least 24 hours. Fourth reverts just outside the 24-hour period may also be taken as evidence of edit-warring, especially if repeated or combined with other edit-warring behavior." From my understanding, I have performed one edit and suddenly I am threatened to be blocked as per 3RR (I assume a threat as I believe anyone respectfully sending an editor to discuss on the talk page would not start their sentence by "To avoid 3RR", especially when one edit was performed). I think the goal underlying Wikipedia is to have editors contribute to an article respectfully, but I notice this might not be the goal behind everyone's contribution. Spyder212 (talk) 00:15, 6 March 2019 (UTC)

Hello @Spyder212:, thanks for the feedback. I am sorry for the misunderstanding. I was the one in danger with the WP:3R not you, Meanmicio deleted the information, I reverted it calling to take a look at the talk [11], and then you reverted it back, so I had to go for a second revert[12]. Before all this, I asked the Wikipedia: Wikiproject Medicine for help on this issue. The solution was to use Saint Vitus's dance (SVD) article as a disambiguation for the choreas (Syndenham and Hungtington). Feel free to provide sources so we can discuss. What I could find is that SVD is usually an ancient term for chorea (that includes both SC and HD) [13]. I started the discussion because I know that in French and Spanish, HD is associated still with SVD, in Venezuela where there is the highest density of HD cases this disease is still referred informally as 'Saint Vitus illness' [14]. And lastly, there are a few books I could find on Google that show the link [15][16]. --MaoGo (talk) 09:16, 6 March 2019 (UTC)

Expand

This is a nice Featured Article, yet I feel that there is missing a mention or two on the historical relationship between Sydenham's chorea and HD (see also Saint Vitus' dance and other archived comments about it).--MaoGo (talk) 18:47, 23 September 2019 (UTC)

Class project!

Hey everyone! I am currently a student learning how to use and edit/evaluate Wiki pages! I think this was an extremely well put together article! Zoehazel21 (talk) 20:34, 11 September 2019 (UTC)

Glad you like it. The star in the upper right corner means it is a featured article, which means that Wikipedia has reviewed it thoroughly and thinks it's of the highest possible quality.

Drop me a message if you need any help! JFW | T@lk 21:02, 11 September 2019 (UTC)

Sorry if I'm doing this wrong, but would it be possible to add this article about the relationship between HD and other conditions? Harvard2TheBigHouse (talk) 17:45, 14 October 2019 (UTC)

Looks interesting / important - basically, notable - so yes. But we might need to wait till it’s picked up in secondary sources - see WP:MEDRS. (At present it’s a biorxiv preprint, so not even, technically, reviewed and published.) – SquisherDa (talk) 10:18, 10 November 2019 (UTC)

FAR needed

This is a 2009 promotion, with most of the principle authors and WP:FAC nominator long gone. Most of the article is cited to 2007 sources, and there is considerable updating needed. There are almost no new sources used in the article, and several issues raised on this talk page that haven't been addressed. Some new reviews are:

• PMID 28817209
• PMID 28961886
• PMID 29427096
• PMID 31940909

Unless someone is willing/able to take over this article, and do a rewrite/update, it should be submitted to Featured article review. SandyGeorgia (Talk) 02:10, 23 January 2020 (UTC)

Add HDSA link

https://hdsa.org/ — Preceding unsigned comment added by 70.115.222.194 (talk) 16:01, 26 March 2020 (UTC)

Please have a look at the Curlie links under the External links section of the article; advocacy groups should be linked there, per WP:MEDMOS. SandyGeorgia (Talk) 16:55, 26 March 2020 (UTC)

Huntington's Disease

I thought this article had a lot of information, most of which that is helpful and is related to the topic, but most of it is not really needed there. The level of language and medical terminology used in this article is good, but not everyone can understand that level of medical terminology. I think it should be a little simplified so it is for like anyone that has no knowledge of this disease. Tavkaur25 (talk) 00:24, 30 May 2020 (UTC)

Propose updating article

It is badly dated, missing gene editing clinical trials on the HDSA website in 2019, and can be fixed. PhDMarkWilliamSchae1960 (talk) 19:16, 4 November 2019 (UTC)

To me this is a puzzling proposal. If deleted, the article would need to be written again. If that's necessary, it's quite a task and needs getting onto without delay. The existing article would an obvious starting-point and point of reference. Deleting it would only add to the difficulty of the rewrite. And the delay.

So I can't imagine circumstances in which deletion would be appropriate; or any reason for suggesting it. Anyone able to explain? to suggest where there might be advantage in the idea? --SquisherDa (talk) 13:56, 23 March 2020 (UTC)

No, I don't think the article should be deleted. There's a lot of good material here, even if it needs an update. I think it's just better to update the parts that need it. TylerDurden8823 (talk) 18:05, 23 March 2020 (UTC)

I think I've found the answer to my own question ("Anyone able to explain?"). I think PhDMarkWilliamSchae1960 has had such grim experience here, of contributions to the article all brusquely rejected, tht he has concluded it's impenetrably owned and defended; and feels it has severe deficiencies, and concludes tht if it can't be corrected it's better if it's deleted.

My conclusions are (1) we are instead going to fix it after all: so no reason to delete (!); (2) it might be better if editors looking after the article took more care in explaining reverts of good-faith contributions (!!); and (3) even where policy and practice / guidelines make it hard to respond directly to this contributor's criticisms (eg see below), we would do well to do our best.

Maybe he has a point ("less jargon and more humanity") tht things like the drive for concision, and the need for article phrasing to relate recognisably to the content of reliable medical sources, sometimes carry us too far into breach of WP:JARGON? It's a broad issue - applying to many medical articles.

It's perhaps most difficult to reconcile the contrasting demands in articles' top sections ('ledes'). Most difficult: yet most important, as the top is the 'landing zone' for readers who are newcomers to the entire subject area. Some will have no idea whatever of the depth of training supporting the familiar MD: let alone of the research behind that training. In contrast, our general principle tht the top summarises the body pushes us directly to write a review-article abstract instead of a subject introduction. l

Maybe instead we should be aiming for the top to be a thoroughly graspable overview - even for readers altogether unfamiliar with medical or technical topics? so they've got what they wanted by the time they reach the ToC, and stop there? So they don't push on with declining hope and worsening bafflement into the article body: authoritative but (to them) impenetrable.

It's an approach tht would sometimes mean a clear contrast of tone between top and body. I've no idea whether this article would be the right place to explore these ideas. Maybe it's about the right time, though, in Wikipedia's continuing development.

-- SquisherDa (talk) 19:37, 28 March 2020 (UTC)

Most people don't speak Latin; only doctors, reporters and lawyers do. This article needs less jargon and more humanity, start with "autosomal dominant disorder" and "full penetrant" Mark. — Preceding unsigned comment added by 2605:6000:1015:249:50bd:c5eb:5c39:89fc (talk) 16:07, 30 May 2020 (UTC)

There are some great ideas being discussed. I would definitely agree that there is no reason to delete the whole article. However, does anyone else feel like the last few sections do not add much information? Personally I feel like more information needs to be added or, if there has not been more research done on the subject those sections could be removed until further information is available. I do like how organized the article is. So, if things can be updated this will be a great article. Dmarshall007 (talk) 21:40, 19 January 2021 (UTC)

Wiki Education Foundation-supported course assignment

This article was the subject of a Wiki Education Foundation-supported course assignment, between 8 January 2020 and 25 March 2020. Further details are available on the course page. Student editor(s): Kweeden.

Above undated message substituted from Template:Dashboard.wikiedu.org assignment by PrimeBOT (talk) 00:05, 17 January 2022 (UTC)