PRICKLE1-related progressive myoclonus epilepsy with ataxia

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PRICKLE1-related progressive myoclonus epilepsy with ataxia
Other namesProgressive myoclonus epilepsy-ataxia syndrome
Specialty Medical genetics
Symptoms Myoclonus, epilepsy, and ataxia
Usual onsetMid/late childhood
DurationLifelong
Causes Genetic mutation
PreventionNone
Prognosis Medium
Frequencyvery 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.

Contents

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. [1]

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. [2] These mutations are inherited either by autosomal recessive or autosomal dominant inheritance. [3]

Treatment

This condition is usually managed with occupational therapy, physical therapy, and speech therapy, anti-seizure medications, and adaptive devices. [4]

Epidemiology

According to OMIM, only 17 cases from families in the Middle East and Western Asia [5] (more specifically, Saudi Arabia and Jordan). [6] [7] [8]

References

  1. ↑ "PRICKLE1-related progressive myoclonus epilepsy with ataxia: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-06-06.
  2. ↑ 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.
  3. ↑ Bassuk, Alexander G; Wallace, Robyn H; Buhr, Aimee; Buller, Andrew R; Afawi, Zaid; Shimojo, Masahito; Miyata, Shingo; Chen, Shan; Gonzalez-Alegre, Pedro; et al. (November 2008). "A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome". American Journal of Human Genetics. 83 (5): 572–81. doi:10.1016/j.ajhg.2008.10.003. PMC   2668041 . PMID   18976727.
  4. ↑ 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
  5. ↑ "OMIM Entry - # 612437 - EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B". omim.org. Retrieved 2022-06-06.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
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