Autosomal recessive ataxia, Beauce type

MONDO:0012549

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, SCAR8, autosomal recessive cerebellar ataxia type 1, spinocerebellar ataxia, autosomal recessive type 8, SYNE1-related autosomal recessive cerebellar ataxia, ataxia, recessive, of Beauce, autosomal recessive ataxia Beauce type, autosomal recessive spinocerebellar ataxia 8

29 clinical trials for this condition and its sub-types.

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