Friedreich's ataxia in Japan: clinical and genetic analyses in 52 cases.
Among 844 proband cases with various types of spinocerebellar degenerations reported to us by about 200 major neurological clinics in Japan, there were 26 males and 26 females with Friedreich's ataxia. Genetic analysis disclosed recessive transmission of these cases. Clinical patterns were almost identical with the cases observed in Europe and Canada.
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D001921:Brain / Q000000981:diagnostic imaging; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004584:Electronystagmography; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D008297:Male; D014057:Tomography, X-Ray Computed