| 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 | - |
PRICKLE1-related progressive myoclonus epilepsy with ataxia is a very rare genetic disorder which is characterized by myoclonic epilepsy and ataxia.
Signs and symptoms
Ataxia 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.
Causes
As 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. These mutations are inherited either by autosomal recessive or autosomal dominant inheritance.
Treatment
This condition is usually managed with occupational therapy, physical therapy, and speech therapy, anti-seizure medications, and adaptive devices.
Epidemiology
According to OMIM, only 17 cases from families in the Middle East and Western Asia (more specifically, Saudi Arabia and Jordan).
References
- "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.