CENTRAL PHENOTYPE AND RELATED VARIETIES OF SPINOCEREBELLAR ATAXIA 2(SCA2) - A CLINICAL AND GENETIC-STUDY WITH A PEDIGREE IN THE JAPANESE

The gene for SCA2 has been mapped to chromosome 12q23-q24.1, but the m utant gene remained to be identified. When studying a Japanese family with SCA2, we noted that clinical features and disability varied among patients, with the central feature being progressive ataxia-slow eye movement-hyporeflexia syndrome. Additional symptoms were parkinsonism with minor cerebellar deficits, and severe ataxia with choreoathetosis . Our experience plus related literature documentation indicates that choreoathetosis is not so rare at the advanced stage of the disease, w ith onset at an early age, and that the variety of SCA2 phenotype depe nds on age at onset and duration of the disorder.