PRICKLE1-related progressive myoclonus epilepsy with ataxia is a very rare genetic disorder which is characterized by myoclonic epilepsy and ataxia.
| PRICKLE1-related progressive myoclonus epilepsy with ataxia | |
|---|---|
| Other names | Progressive myoclonus epilepsy-ataxia syndrome |
| Specialty | Medical genetics |
| Symptoms | Myoclonus, epilepsy, and ataxia |
| Usual onset | Mid/late childhood |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Medium |
| Frequency | very rare, only 17 cases from families across Western Asia and the Middle East have been described in medical literature |
| Deaths | - |
Signs and symptoms
editAtaxia is usually one of the first symptoms of this disorder, followed by early/mid childhood-onset myoclonus, which can lead to dysarthria, and mid/late childhood-onset epilepsy. It is more common for the epileptic grand-mal seizures to begin at night. This is one of few genetic disorders which do not affect the intellect of the person afflicted by it.[1]
Causes
editAs its name suggests, this disorder is caused by mutations (usually a point one) of the PRICKLE1 gene, in chromosome 12. This gene produces a protein called "prickle homolog 1" which is thought (but not certainly known) to be essential in brain development.[2] These mutations are inherited either by autosomal recessive or autosomal dominant inheritance.[citation needed]
Treatment
editThis condition is usually managed with occupational therapy, physical therapy, and speech therapy, anti-seizure medications, and adaptive devices.[3]
Epidemiology
editAccording to OMIM, only 17 cases from families in the Middle East and Western Asia[4] (more specifically, Saudi Arabia and Jordan).[5][6][7]
References
edit- ^ "PRICKLE1-related progressive myoclonus epilepsy with ataxia: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-06-06.
- ^ Mastrangelo, Mario; Tolve, Manuela; Martinelli, Martina; Di Noia, Sofia P.; Parrini, Elena; Leuzzi, Vincenzo (December 2018). "PRICKLE1 -related early onset epileptic encephalopathy". American Journal of Medical Genetics Part A. 176 (12): 2841–2845. doi:10.1002/ajmg.a.40625. hdl:11573/1174137. PMID 30345727. S2CID 53044939.
- ^ Mastrangelo, Mario; Caputi, Caterina; Esposito, Dario; Leuzzi, Vincenzo (1993), Adam, Margaret P.; Mirzaa, Ghayda M.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "PRICKLE1-Related Disorders", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301774, retrieved 2022-06-06
- ^ "OMIM Entry - # 612437 - EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B". omim.org. Retrieved 2022-06-06.
- ^ Berkovic, Samuel F.; Mazarib, Aziz; Walid, Simri; Neufeld, Miriam Y.; Manelis, Judith; Nevo, Yoram; Korczyn, Amos D.; Yin, Jinggang; Xiong, Lan; Pandolfo, Massimo; Mulley, John C. (March 2005). "A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping". Brain: A Journal of Neurology. 128 (Pt 3): 652–658. doi:10.1093/brain/awh377. ISSN 1460-2156. PMID 15634728.
- ^ Straussberg, R.; Basel-Vanagaite, L.; Kivity, S.; Dabby, R.; Cirak, S.; Nurnberg, P.; Voit, T.; Mahajnah, M.; Inbar, D.; Saifi, G. M.; Lupski, J. R. (2005-01-11). "An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures". Neurology. 64 (1): 142–144. doi:10.1212/01.WNL.0000148600.60470.E6. ISSN 1526-632X. PMID 15642921. S2CID 27971411.
- ^ El-Shanti, Hatem; Daoud, Azhar; Sadoon, Ammar A.; Leal, Suzanne M.; Chen, Shan; Lee, Kwanghyuk; Spiegel, Ronald (July 2006). "A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan". Brain & Development. 28 (6): 353–357. doi:10.1016/j.braindev.2005.11.003. ISSN 0387-7604. PMC 6143173. PMID 16376507.