C142838Level 9
Spinocerebellar Ataxia Type 6
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive spinocerebellar ataxia caused by an expanded CAG repeat in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A. It is an almost pure cerebellar syndrome, with onset typically between the ages of 20 to 60.
**Synonyms:** - SCA6
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