title: Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
abstract: We describe a 54-year-old man with dominant adult-onset dopa-responsive dystonia (DRD) with parkinsonism caused by an Arg184His mutation in guanosine 5'-triphosphate cyclohydrolase I (GCH-I). This is the first mutation in the GCH-I gene that has been proven to be responsible for both recessive and dominant phenotypes.
authors.affiliation: Department of Neurology, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Akio
authors.initials: A
authors.lastname: Kikuchi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Takeda
authors.forename: Kazuo
authors.initials: K
authors.lastname: Fujihara
authors.forename: Teiko
authors.initials: T
authors.lastname: Kimpara
authors.forename: Yusei
authors.initials: Y
authors.lastname: Shiga
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Tanji
authors.forename: Makiko
authors.initials: M
authors.lastname: Nagai
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ichinose
authors.forename: Fumi
authors.initials: F
authors.lastname: Urano
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Okamura
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Arai
authors.forename: Yasuto
authors.initials: Y
authors.lastname: Itoyama
mesh_terms: D000978:Antiparkinson Agents / Q000627:therapeutic use*; D001120:Arginine / Q000235:genetics*; D001921:Brain / Q000098:blood supply / Q000378:metabolism / Q000473:pathology; D004421:Dystonia / Q000188:drug therapy* / Q000209:etiology*; D006136:GTP Cyclohydrolase / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000209:etiology*; D010375:Pedigree; D010661:Phenylketonurias / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D014055:Tomography, Emission-Computed; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D000978:Antiparkinson Agents; D007980:Levodopa; D001120:Arginine; D006136:GTP Cyclohydrolase