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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
Huntington's disease-like syndromes (HD-like syndromes , or HDL syndromes ) are a family of inherited neurodegenerative diseases that closely resemble Huntington's disease (HD ) in that they typically produce a combination of chorea , cognitive decline or dementia and behavioural or psychiatric problems.[1]
HDL1 is an unusual, autosomal dominant familial prion disease . Only described in one family, it is caused by an eight-octapeptide repeat insertion in the PRNP [1]
HDL2 is the most common HD-like syndrome and is caused by CTG/CAG triplet expansions in the JPH3 [1]
HDL3 is a rare, autosomal recessive disorder linked to chromosome 4p15.3. It has only been reported in two families, and the causative gene is unidentified.[1]
Other neurogenetic disorders can cause an HD-like or HD phenocopy syndrome but are not solely defined as HDL syndromes. The commonest is spinocerebellar ataxia type 17 (SCA-17), occasionally called HDL-4. Others include mutations in C9orf72 [2] [3] neuroacanthocytosis , dentatorubral-pallidoluysian atrophy (DRPLA), brain iron accumulation disorders , Wilson's disease , benign hereditary chorea , Friedreich's ataxia and mitochondrial diseases .[1]
A Huntington's disease-like presentation may also be caused by acquired causes .[1]
References [ edit ]
^ Hensman Moss, DJ; Poulter, M; Beck, J; Hehir, J; Polke, JM; Campbell, T; Adamson, G; Mudanohwo, E; McColgan, P; Haworth, A; Wild, EJ; Sweeney, MG; Houlden, H; Mead, S; Tabrizi, SJ (28 January 2014). "C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies" . Neurology . 82 4 ): 292–9. doi :10.1212/WNL.0000000000000061 . PMC 3929197 PMID 24363131 .
^ Cooper-Knock, J; Shaw, PJ; Kirby, J (March 2014). "The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype" . Acta Neuropathologica . 127 (3 ): 333–45. doi :10.1007/s00401-014-1251-9 . PMC 3925297 PMID 24493408 .
External links [ edit ]
R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Huntington%27s_disease-like_syndrome&oldid=1155355340 " C a t e g o r i e s : ● R a r e s y n d r o m e s ● E x t r a p y r a m i d a l a n d m o v e m e n t d i s o r d e r s ● G e n e t i c s y n d r o m e s ● S y s t e m i c a t r o p h i e s p r i m a r i l y a f f e c t i n g t h e c e n t r a l n e r v o u s s y s t e m ● A u t o s o m a l d o m i n a n t d i s o r d e r s ● T r i n u c l e o t i d e r e p e a t d i s o r d e r s ● H u n t i n g t o n ' s d i s e a s e 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 i s d i f f e r e n t f r o m W i k i d a t a
● T h i s p a g e w a s l a s t e d i t e d o n 1 7 M a y 2 0 2 3 , a t 2 0 : 1 7 ( 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
