
pmid: 8914106
AbstractDominantly 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.
Adult, Male, Neurologic Examination, Carbidopa, Machado-Joseph Disease, Antiparkinson Agents, Levodopa, Drug Combinations, Phenotype, Humans, Female, Genes, Dominant
Adult, Male, Neurologic Examination, Carbidopa, Machado-Joseph Disease, Antiparkinson Agents, Levodopa, Drug Combinations, Phenotype, Humans, Female, Genes, Dominant
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