Article
[Some problems on the clinical phenotype of Machado-Joseph disease in relation between their ages at onset].
No to shinkei = Brain and nerve - 1 Mar 1993
Iwabuchi K, Kogure T, Oda T, Kato Y, Ohtani K, Endo K, Kosaka K, Amano N, Yagishita S
Abstract excerpt
UNLABELLED: This study proposed that three phenotypes of Machado-Joseph disease (MJD) are closely related to the patients' ages at onset. MATERIALS: Six patients from two families. Autopsy performed in three of them (case 2, 4, 5). Two patients are a father (case 4) and his son (case 5). RESULTS: 1. Clinical features. All cases showed cerebellar ataxia and nystagmus. Progressive nuclear oculomotor palsy was...
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