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Intrafamilial variability in Machado‐Joseph disease
Author(s) -
Subramony S. H.,
Currier R. D.
Publication year - 1996
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.870110625
Subject(s) - machado–joseph disease , phenotype , disease , clinical phenotype , levodopa , ataxia , degenerative disease , genetics , spinocerebellar ataxia , biology , neuroscience , medicine , gene , parkinson's disease , pathology
Dominantly inherited ataxias resulting from different gene mutations are difficult to distinguish based on clinical phenotypes. We believe the phenotypic variability within families can be a clue to clinical diagnosis. We illustrate the range of phenotypes extending from levodopa‐responsive extrapyramidal disease to more purely ataxic syndromes seen in two families with molecularly proven Machado‐Joseph disease.