Spinocerebellar Ataxia Type 12

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant sub-type of spinocerebellar ataxia caused by mutation(s) in the PPP2R2B gene, encoding serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform. It presents with characteristic action tremors in the upper limbs, followed by other movement abnormalities.

**Synonyms:** - SCA12