AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (SCA6) - CLINICAL, GENETIC AND NEUROPATHOLOGICAL STUDY IN A FAMILY

We describe a family with dominantly inherited ataxia of late adult on set. Expansion of a CAG repeat in the gene encoding the alpha(1A) volt age-dependent calcium channel was identified at autopsy in one patient , a 65-year-old woman with a disease duration of 11 years. In this pat ient, pathological changes were confined to the cerebellar cortex and inferior olivary complex, The cerebellar cortex showed severe loss of Purkinje cells with proliferation of Bergmann's glia, being more prono unced in the superior parts of the vermis and hemispheres. In the infe rior olivary complex, a reduced neuronal cell population, which could be interpreted as a change secondary to the cerebellar cortical lesion , was evident. We conclude that the pathological phenotype of this new ly classified autosomal dominant cerebellar ataxia, SCA6, is cerebello -olivary atrophy, or more strictly cerebellar cortical atrophy.