Spinocerebellar Ataxia Type 2

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the ATXN2 gene, encoding ataxin-2. Specifically, the mutation is an expanded CAG trinucleotide repeat in the gene. It is a progressive cerebellar ataxia associated supranuclear ophthalmoplegia, mild dementia and peripheral neuropathy.

**Synonyms:** - OPCA2 - Olivopontocerebellar Atrophy 2 - SCA2 - Wadia-Swami Syndrome