Spastic paraplegia 6 is a rare type of hereditary spastic paraplegia characterized by muscle tone and bladder anomalies associated with pes cavus and specific hyperreflexia.
| Spastic paraplegia 6 | |
|---|---|
| Other names | SPG6, Familial spastic paraplegia autosomal dominant 3, FSP3[1] |
| Specialty | Medical genetics |
| Symptoms | Neurological |
| Usual onset | Birth |
| Duration | Lifelong |
| Types | Pure and Complex |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Medium |
| Frequency | rare, only 73 cases have been described in medical literature |
| Deaths | - |
Signs and symptoms
editPeople with spastic paraplegia 6 generally start showing symptoms during their late teenage years or early adulthood, the symptoms are spasticity affecting the lower limbs, hyperreflexia, high-arched feet (pes cavus), and mild bladder problems.[2][3]
Less common symptoms include epilepsy, peripheral neuropathy of variable degrees, and memory problems.[3][2]
Complications
editThere are various complications related to the symptoms of SP6
For example, the pes cavus deformity can cause claw toes, hindfoot deformity, big toe cockup deformity, and plantar fascia contractures.[4] The spasticity can cause chronic pain, joint deformities, chronic constipation and pressure-associated sores,[5] etc.
Types
editThere are two subtypes of SPG6: pure and complex[6]
The pure form involves symptoms affecting the lower extremities.[6]
The complex form involves symptoms affecting both lower and upper extremities, although it affects the upper extremities to a lesser extent.[6]
Treatment
editTreatment is focused on the symptoms themselves.
Causes
editThis condition is caused by autosomal dominant mutations in the NIPA1 gene, in chromosome 15, although the genetic cause can vary among families: this gene mutation was found in a large family from Britain.[7]
Epidemiology
editAccording to OMIM,[8] 73 cases have been described in medical literature.[9][7][10]
References
edit- ^ "Spastic paraplegia 6". 16 June 2022.
- ^ a b "Spastic paraplegia 6 - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-07-01.
- ^ a b RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal dominant spastic paraplegia type 6". www.orpha.net. Retrieved 2022-07-01.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Pes Cavus: Practice Essentials, Etiology, Prognosis". 2021-05-07.
{{cite journal}}: Cite journal requires|journal=(help) - ^ "Spasticity". www.hopkinsmedicine.org. 2021-08-08. Retrieved 2022-07-01.
- ^ a b c "Genetic Testing - familial spastic paraplegia type 6 (Spastic paraplegia type 6 -SPG6-) - Gen NIPA1 . - IVAMI". www.ivami.com. Retrieved 2022-07-01.
- ^ a b Reed, Johanna A.; Wilkinson, Phillip A.; Patel, Heema; Simpson, Michael A.; Chatonnet, Arnaud; Robay, Dimitri; Patton, Michael A.; Crosby, Andrew H.; Warner, Thomas T. (2005-05-01). "A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia". Neurogenetics. 6 (2): 79–84. doi:10.1007/s10048-004-0209-9. ISSN 1364-6745. PMID 15711826. S2CID 2236413.
- ^ "Entry - #600363 - Spastic paraplegia 6, autosomal dominant; SPG6 - OMIM". omim.org. Retrieved 2022-07-01.
- ^ Fink, J. K.; Sharp, G. B.; Lange, B. M.; Wu, C. B.; Haley, T.; Otterud, B.; Peacock, M.; Leppert, M. (1995-02-01). "Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family". Neurology. 45 (2): 325–331. doi:10.1212/wnl.45.2.325. ISSN 0028-3878. PMID 7854534. S2CID 33624423.
- ^ Rainier, Shirley; Chai, Jing-Hua; Tokarz, Debra; Nicholls, Robert D.; Fink, John K. (2003-10-01). "NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)". American Journal of Human Genetics. 73 (4): 967–971. doi:10.1086/378817. ISSN 0002-9297. PMC 1180617. PMID 14508710.