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Orphanet References OMIM Gene GeneReviews HGMD HGNC
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)