Identification de nouvelles formes d'ataxies récessives – AAR

Inherited ataxias are movement coordination disorders that affect about 1/10000 individuals. While gene identification in about half of the cases has shed tremendous light on the pathophysiological mechanisms of these disorders, it has also revealed their extreme heterogeneity. The remaining cases are certainly caused by mutations in several dozen of different genes, the identification of which is an obligate step in order to understand the common pathological pathways shared by the inherited degenerative ataxias. The project involves the identification of novel forms of degenerative recessive ataxias by linkage studies and the subsequent identification of the corresponding defective genes. This will be achieved by the identification of cohorts of patients and families for whom known causes of rare recessive ataxia have been excluded. Few rare large consanguineous families will first be analysed in order to identify new loci by linkage studies with high density SNP arrays. Clinical and linkage findings will progressively be extended to smaller families in order to define genetically and clinically homogeneous set of patients suitable for mutation search in novel genes.