autosomal recessive ataxia, Beauce type
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.
MONDO:0015244
autosomal recessive cerebellar ataxia
is_a
ARCA1
exact
SCAR8
exact
SYNE1-related autosomal recessive cerebellar ataxia
related
autosomal recessive ataxia Beauce type
related
autosomal recessive cerebellar ataxia type 1
exact
autosomal recessive spinocerebellar ataxia 8
related
recessive ataxia of Beauce
related
spinocerebellar ataxia autosomal recessive 8
related
spinocerebellar ataxia, autosomal recessive 8
related
spinocerebellar ataxia, autosomal recessive type 8
exact