G.P.18.08 Clinical and genetic study of autosomal recessive cerebellar ataxia type 1

Abstract

Background: Over the last decade, we have identified a large cluster of French-Canadian families whose ancestors originate mostly from the same region of the Province of Quebec (Canada). The affected individuals in these families all share similar clinical characteristics that define this new disease entity we named Autosomal Recessive Cerebellar Ataxia type 1 (ARCA-1). Objectives: Define the phenotype and genotype of 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.