Hereditary cerebellar atrophy (Holmes type) with optic atrophy: a clinico-pathological study of four generations in a family.
A family with a dominantly inherited progressive cerebellar ataxia is described; four members of successive generations were affected. Neuropathological examination of one family member classified this disorder as hereditary cerebellar atrophy of Holmes type. An associated optic atrophy has not been previously reported in this disease.
D000328:Adult; D000368:Aged; D001284:Atrophy / Q000235:genetics / Q000473:pathology; D001933:Brain Stem / Q000473:pathology; D002524:Cerebellar Ataxia / Q000235:genetics / Q000473:pathology; D002526:Cerebellar Diseases / Q000235:genetics / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D005911:Gliosis / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009410:Nerve Degeneration; D009896:Optic Atrophy / Q000235:genetics / Q000473:pathology*; D009897:Optic Chiasm / Q000473:pathology; D010375:Pedigree