Autosomal recessive ataxia, Beauce type
Engelsk navn: Autosomal recessive ataxia, Beauce type
Engelske synonym: ARCA1,Autosomal recessive cerebellar ataxia type 1,SCAR8
A rare disorder characterised 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 <i<SYNE1</i> gene mutations.