Intrafamilial variability in Machado-Joseph disease.
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.
Department of Neurology, University of Mississippi Medical Center, Jackson 39216, USA.
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D000328:Adult; D000978:Antiparkinson Agents / Q000627:therapeutic use; D002230:Carbidopa / Q000627:therapeutic use; D004338:Drug Combinations; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D017827:Machado-Joseph Disease / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D009460:Neurologic Examination / Q000187:drug effects; D010641:Phenotype
D000978:Antiparkinson Agents; D004338:Drug Combinations; C009265:carbidopa, levodopa drug combination; D007980:Levodopa; D002230:Carbidopa