G.P.92 Study of an autosomal recessive spinocerebellar ataxia with peripheral neuropathy

Abstract The autosomal recessive spinocerebellar ataxias are a clinically and genetically heterogeneous group of neurodegenerative disorders associated with 10 disease genes and seven other loci. Because of the genetic and phenotypic heterogeneity of this disease, a large percentage of cases go without a genetic diagnosis. In the family under investigation, two out of eight siblings are affected, and the parents are second cousins, suggesting a recessive disease. The two affected brothers presented at 55 and 54 years respectively with weakness about the ankles, poor balance and chronic cough. There were cerebellar signs with saccadic interruption of eye movements and a wide-based gait, and later on dysarthria. Creatine kinase was elevated, to between 580 and 1020 (N