HAS SPINOCEREBELLAR ATAXIA TYPE-2 A DISTINCT PHENOTYPE - GENETIC AND CLINICAL-STUDY OF AN ITALIAN FAMILY

The gene for spinocerebellar ataxia type 2 (SCA2) is mapped to chromos ome 12q23-24.1. Using D12S79 and D12S105, we performed linkage analysi s in nine individuals including six affected members of a four-generat ion family in which we excluded SCA1 by direct mutation analysis. We o btained a lod score = 2.37 at theta = 0.00 for the compound haplotype. The clinical picture appeared homogeneous, showing the absence of cor ticospinal signs and the presence of peripheral neuropathy. The presen t study suggests that this SCA2 family is clinically different from mo st SCAI families.