title: Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease.
abstract: The causative gene for hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) was discovered in 1994 to be guanosine triphosphate (GTP) cyclohydrolase I, an enzyme involved in tetrahydrobiopterin biosynthesis. To the present, more than 50 mutations have been found in this gene in HPD/DRD patients. Although it is clear that HPD/DRD is caused by partial deficiency of tetrahydrobiopterin in the brain, several important issues regarding the molecular etiology of HPD/DRD remain to be addressed. We review herein the recent progress in the molecular genetics of HPD/DRD and clarify the points to be answered.
authors.affiliation: Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, 470-1192, Aichi, Japan. hichi@fujita-hu.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Ichinose
authors.forename: H
authors.initials: H
authors.lastname: Inagaki
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
authors.forename: T
authors.initials: T
authors.lastname: Ohye
authors.forename: T
authors.initials: T
authors.lastname: Nagatsu
mesh_terms: D001708:Biopterins / Q000031:analogs & derivatives* / Q000096:biosynthesis / Q000172:deficiency; D004421:Dystonia / Q000097:blood* / Q000235:genetics* / Q000503:physiopathology; D020821:Dystonic Disorders / Q000097:blood* / Q000235:genetics* / Q000503:physiopathology; D006136:GTP Cyclohydrolase / Q000097:blood; D006801:Humans
chemical_list: D001708:Biopterins; D006136:GTP Cyclohydrolase; C003402:sapropterin