Article
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.
Annals of neurology - 1 Jul 2007
Dupré Nicolas, Gros-Louis François, Chrestian Nicolas, Verreault Steve, Brunet Denis, de Verteuil Danielle, Brais Bernard, Bouchard Jean-Pierre, Rouleau Guy A
Abstract excerpt
OBJECTIVE: Define the phenotype and genotype of a cluster of families with a relatively pure cerebellar ataxia referred to as autosomal recessive cerebellar ataxia type 1 (ARCA-1). METHODS: We ascertained 64 probands and affected members of 30 French-Canadian families all showing similar clinical features and originating from the same region of Quebec. After informed consent, we performed detailed clinical...
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