title: A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia.
abstract: We report a 37-year-old Japanese woman with hereditary progressive dystonia with marked diurnal fluctuation and dopa-responsive dystonia. She developed dystonia in the lower limbs at the age of 11 years, followed by spasmodic torticollis and resting tremor of the feet, which responded remarkably to low doses of levodopa (100 mg/day). Concentrations of biopterin and neopterin in CSF were decreased. Polymerase chain reaction analysis of the guanosine 5'-triphosphate cyclohydrolase I gene revealed a novel mutation (Thr186-->Lys).
authors.affiliation: Department of Neurology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Imaiso
authors.forename: T
authors.initials: T
authors.lastname: Taniwaki
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: T
authors.initials: T
authors.lastname: Yoshimura
authors.forename: M
authors.initials: M
authors.lastname: Hirano
authors.forename: S
authors.initials: S
authors.lastname: Ueno
authors.forename: N
authors.initials: N
authors.lastname: Kaneda
authors.forename: J
authors.initials: J
authors.lastname: Kira
mesh_terms: D000328:Adult; D002940:Circadian Rhythm; D004421:Dystonia / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D004576:Electromyography; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008239:Lysine; D018482:Muscle, Skeletal / Q000503:physiopathology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013912:Threonine; D014103:Torticollis; D014202:Tremor
chemical_list: D013912:Threonine; D007980:Levodopa; D006136:GTP Cyclohydrolase; D008239:Lysine