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Spinocerebellar ataxia type 31

Orpha number ORPHA217012
Synonym(s) SCA31
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Adult
  • G11
MeSH -
MedDRA -


Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) found almost exclusively in Japan, characterized by the late-onset of cerebellar ataxia, dysarthria, horizontal gaze nystagmus and impaired pursuit and less commonly, pyramidal signs and hearing difficulties, and with a disease duration of over 10 years.

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Detailed information

Review article
  • EN (2013)
Clinical genetics review
  • EN (2014)
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