A CLINICAL, GENETIC, NEUROPATHOLOGICAL STUDY IN A JAPANESE FAMILY WITH SCA-6 AND A REVIEW OF JAPANESE AUTOPSY CASES OF AUTOSOMAL-DOMINANT CORTICAL CEREBELLAR ATROPHY

This report concerns a Japanese family with genetically confirmed SCA 6, including an autopsy case, and a review of Japanese autopsy cases o f autosomal dominant cortical cerebellar atrophy (ADCGA). The proband (Case 1) was a Japanese woman. She developed gait disturbance at age 6 2. The father and younger sister (Case 2) had the same disorder. She d ied at age 67 due to subarachnoid hemorrhage. Neuropathological examin ation revealed severe loss of Purkinje cells in the cerebellum, promin ently in the dorsal vermis, and absence of neuronal loss in the inferi or olives. Molecular genetic study showed the GAG-repeat expansion of SGA 6 gene. The younger sister (Case 2) developed gait disturbance at age 62. Neurological examination at age 66 revealed cerebellar signs w ithout sensory disturbance. Neuroimaging at this dme showed cerebellar atrophy, prominently in the vermis. She died of multiple myeloma at a ge 66. A neuropathological review of Japanese autopsy cases of ADCCA s howed that there are two patterns in the distribution of cerebellar co rtical lesions of Japanese patients with ADCCA. The distribution of ce rebellar cortical lesions in genetically confirmed Japanese patients w ith SCA 6 is more prominent in the vermis than in the hemisphere. (C) 1998 Elsevier Science B.V. All rights reserved.