title: A family with hereditary juvenile dystonia-parkinsonism.
abstract: We report a family with autosomal dominant type hereditary juvenile dystonia-parkinsonism in which eight members in three generations exhibited parkinsonism, sleep benefit, marked efficacy of levodopa, wearing-off phenomenon, and dopa-induced choreic dyskinesia. However, one case showed mainly dystonic movement that worsened after administration of levodopa. The patients in this family showed neck dystonia, such as torticollis and retrocollis, in addition to foot dystonia and other dystonic movement, such as frequently lifting the thigh. From the family history and clinical findings, these patients are considered to have a specific form of hereditary dystonia-parkinsonism.
authors.affiliation: Department of Neurology, Niigata University, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Ishikawa
authors.forename: T
authors.initials: T
authors.lastname: Miyatake
mesh_terms: D000328:Adult; D000368:Aged; D000978:Antiparkinson Agents / Q000009:adverse effects / Q000627:therapeutic use; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004421:Dystonia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D007980:Levodopa / Q000009:adverse effects / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination / Q000187:drug effects; D010300:Parkinson Disease / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D010375:Pedigree; D014103:Torticollis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics
chemical_list: D000978:Antiparkinson Agents; D007980:Levodopa; D006719:Homovanillic Acid