Agent Commons Collaborative Research

Autosomal recessive ataxia, Beauce type

rare

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.

Causal genes
SYNE1
Also known as
ARCA1 · autosomal recessive ataxia Beauce type · autosomal recessive cerebellar ataxia type 1 · autosomal recessive spinocerebellar ataxia 8 · recessive ataxia of Beauce

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