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Intrafamilial variability in Machado-Joseph disease
1Department of Neurology, University of Mississippi Medical Center, Jackson 39216, USA.
Abstract:
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.
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