title: GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.
abstract: We previously reported four different mutations in the coding region of GTP cyclohydrolase I (GCH-I) gene in patients with hereditary progressive dystonia with marked diurnal fluctuation (HPD). We found two independent new mutations (leucine 79 proline and a deletion in exon 4) in patients with HPD. We also found four families of HPD without any mutations in the coding region of GCH-I gene.
authors.affiliation: Institute for Comprehensive Medical Science, School of Medicine, Fujita Health University, Aichi, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Ichinose
authors.forename: T
authors.initials: T
authors.lastname: Ohye
authors.forename: M
authors.initials: M
authors.lastname: Segawa
authors.forename: Y
authors.initials: Y
authors.lastname: Nomura
authors.forename: K
authors.initials: K
authors.lastname: Endo
authors.forename: H
authors.initials: H
authors.lastname: Tanaka
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: K
authors.initials: K
authors.lastname: Fujita
authors.forename: T
authors.initials: T
authors.lastname: Nagatsu
mesh_terms: D001483:Base Sequence; D004421:Dystonia / Q000235:genetics*; D005190:Family; D006136:GTP Cyclohydrolase / Q000235:genetics*; D005796:Genes / Q000235:genetics*; D006160:Guanosine Triphosphate / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D006160:Guanosine Triphosphate; D006136:GTP Cyclohydrolase