Autosomal recessive ataxia, Beauce type

From BugSigDB


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 gene mutations.
Aliases
  • ARCA1
  • ataxia, recessive, of Beauce
  • autosomal recessive ataxia Beauce type
  • autosomal recessive ataxia, Beauce type
  • Autosomal recessive cerebellar ataxia type 1
  • autosomal recessive cerebellar ataxia type 1
  • autosomal recessive spinocerebellar ataxia 8
  • cerebellar ataxia, autosomal recessive, type 1
  • recessive ataxia of Beauce
  • SCAR8
  • spinocerebellar ataxia autosomal recessive 8
  • spinocerebellar ataxia, autosomal recessive 8
  • spinocerebellar ataxia, autosomal recessive type 8
  • SYNE1-related autosomal recessive cerebellar ataxia