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.
MeSH terms
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Adult
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Antiparkinson Agents / therapeutic use
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Carbidopa / therapeutic use
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Drug Combinations
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Female
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Genes, Dominant / genetics
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Humans
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Levodopa / therapeutic use
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Machado-Joseph Disease / diagnosis
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Machado-Joseph Disease / drug therapy
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Machado-Joseph Disease / genetics*
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Male
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Neurologic Examination / drug effects
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Phenotype*
Substances
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Antiparkinson Agents
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Drug Combinations
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carbidopa, levodopa drug combination
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Levodopa
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Carbidopa