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F r o m W i k i p e d i a , t h e f r e e e n c y c l o p e d i a
PRICKLE1-related progressive myoclonus epilepsy with ataxia is a very rare genetic disorder which is characterized by myoclonic epilepsy and ataxia .
Signs and symptoms [ edit ]
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]
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] [citation needed
Treatment [ edit ]
This condition is usually managed with occupational therapy , physical therapy , and speech therapy , anti-seizure medications, and adaptive devices.[3]
Epidemiology [ edit ]
According to OMIM, only 17 cases from families in the Middle East and Western Asia [4] Saudi Arabia and Jordan ).[5] [6] [7]
References [ edit ]
^ 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 .
R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=PRICKLE1-related_progressive_myoclonus_epilepsy_with_ataxia&oldid=1139103175 " C a t e g o r i e s : ● R a r e g e n e t i c s y n d r o m e s ● E p i l e p s y t y p e s H i d d e n c a t e g o r i e s : ● A r t i c l e s w i t h s h o r t d e s c r i p t i o n ● S h o r t d e s c r i p t i o n m a t c h e s W i k i d a t a ● A l l a r t i c l e s w i t h u n s o u r c e d s t a t e m e n t s ● A r t i c l e s w i t h u n s o u r c e d s t a t e m e n t s f r o m J u l y 2 0 2 2
● T h i s p a g e w a s l a s t e d i t e d o n 1 3 F e b r u a r y 2 0 2 3 , a t 1 1 : 0 8 ( U T C ) . ● T e x t i s a v a i l a b l e u n d e r t h e C r e a t i v e C o m m o n s A t t r i b u t i o n - S h a r e A l i k e L i c e n s e 4 . 0 ;
a d d i t i o n a l t e r m s m a y a p p l y . B y u s i n g t h i s s i t e , y o u a g r e e t o t h e T e r m s o f U s e a n d P r i v a c y P o l i c y . W i k i p e d i a ® i s a r e g i s t e r e d t r a d e m a r k o f t h e W i k i m e d i a F o u n d a t i o n , I n c . , a n o n - p r o f i t o r g a n i z a t i o n . ● P r i v a c y p o l i c y ● A b o u t W i k i p e d i a ● D i s c l a i m e r s ● C o n t a c t W i k i p e d i a ● C o d e o f C o n d u c t ● D e v e l o p e r s ● S t a t i s t i c s ● C o o k i e s t a t e m e n t ● M o b i l e v i e w
