Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Definition
A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.
Also known as ARCA1, autosomal recessive cerebellar ataxia type 1, SCAR8, spinocerebellar ataxia, autosomal recessive type 8 — per MONDO