/autosomal recessive ataxia, Beauce type

autosomal recessive ataxia, Beauce type

Rare Disease

MONDO:0012549

Also Known As

ARCA1SCAR8autosomal recessive cerebellar ataxia type 1spinocerebellar ataxia, autosomal recessive type 8SYNE1-related autosomal recessive cerebellar ataxiaataxia, recessive, of Beauceautosomal recessive ataxia Beauce typeautosomal recessive spinocerebellar ataxia 8cerebellar ataxia, autosomal recessive, type 1recessive ataxia of Beaucespinocerebellar ataxia autosomal recessive 8spinocerebellar ataxia, autosomal recessive 8

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.