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GENATLAS PHENOTYPE

last update : 27-08-2014

Symbol	SCA31
Location	16q21
Name	spinocerebellar ataxia 31
Corresponding gene	BEAN1
Main clinical features	adult-onset autosomal-dominant neurodegenerative disorder showing progressive cerebellar ataxia mainly affecting Purkinje cells gait ataxia, cerebellar dysarthria, limb ataxia, decreased muscle tone, and horizontal gaze nystagmus
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)

. insertion located in the intergene region between BEAN1 and TK2 (Sato 2009)