title: [Hereditary progressive dystonia with marked diurnal fluctuation--clinical features and GTP cyclohydrolase I gene mutations].
abstract: Hereditary progressive dystonia with marked diurnal fluctuation (HPD) is a disorder characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of levodopa. Recently the GTP cyclohydrolase I(GCH-I) gene was isolated as the first causative gene for HPD. We analyzed the GCH-I gene in 8 clinically diagnosed HPD patients and found different point mutations in GCH-I gene in 3 subjects. The clinical features of these patients considerably resembled each other. Our results imply that although clinically diagnosed HPD subjects could present diverse symptoms, patients with a mutant GCH-I gene might share homogeneous clinical manifestations.
authors.affiliation: Department of Neurology, Kitano Hospital and Neurological Center.
authors.forename: Y
authors.initials: Y
authors.lastname: Tamaru
authors.forename: H
authors.initials: H
authors.lastname: Ito
authors.forename: T
authors.initials: T
authors.lastname: Imai
authors.forename: M
authors.initials: M
authors.lastname: Hirano
authors.forename: S
authors.initials: S
authors.lastname: Ueno
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002940:Circadian Rhythm; D004421:Dystonia / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation
chemical_list: D006136:GTP Cyclohydrolase