Spinocerebellar Ataxia Type 29

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the ITPR1 gene, encoding inositol 1,4,5-trisphosphate-gated calcium channel ITPR1.

**Synonyms:** - CNPCA - Congenital Nonprogressive Cerebellar Ataxia - SCA29