Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with Parkinsonism: A case report

Movement Disorders

Volumn 19, Issue 5, 2004, Pages 590-593

  Kikuchi, Akio ^a   Takeda, Atsushi ^a   Fujihara, Kazuo ^a   Kimpara, Teiko ^a   Shiga, Yusei ^a   Tanji, Hiroaki ^a   Nagai, Makiko ^a   Ichinose, Hiroshi ^b   Urano, Fumi ^b   Okamura, Nobuyuki ^a   Arai, Hiroyuki ^a   Itoyama, Yasuto ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b FUJITA HEALTH UNIVERSITY   (Japan)

Author keywords

Adult onset; Arg(184)His mutant; Dopa responsive dystonia with parkinsonism; GTP cyclohydrolase I gene; Hyperphenylalaninemia

Indexed keywords

ARGININE; BIOPTERIN; DNA; DOPA DECARBOXYLASE INHIBITOR; DOPAMINE; FLUORODEOXYGLUCOSE F 18; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HISTIDINE; INOSINE PHOSPHATE; IODINE 123; NEOPTERIN; PARKIN; PHENYLALANINE; ANTIPARKINSON AGENT; LEVODOPA;

ADULT; ARTICLE; BLOOD ANALYSIS; BRADYKINESIA; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; COMPUTER ASSISTED EMISSION TOMOGRAPHY; DAILY LIFE ACTIVITY; DNA DETERMINATION; DOMINANT INHERITANCE; DRUG EFFICACY; DYSTONIA; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERPHENYLALANINEMIA; INTELLIGENCE QUOTIENT; MALE; MOTOR DYSFUNCTION; NEUROPSYCHOLOGICAL TEST; PARKINSONISM; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RATING SCALE; RECESSIVE INHERITANCE; SCORING SYSTEM; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; TREATMENT OUTCOME; TREMOR; BRAIN; GENETICS; METABOLISM; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PEDIGREE; PHENYLKETONURIA; POINT MUTATION; RECESSIVE GENE; VASCULARIZATION;

ANTIPARKINSON AGENTS; ARGININE; BRAIN; DYSTONIA; GENES, RECESSIVE; GTP CYCLOHYDROLASE; HUMANS; LEVODOPA; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PARKINSONIAN DISORDERS; PEDIGREE; PHENYLKETONURIAS; POINT MUTATION; TOMOGRAPHY, EMISSION-COMPUTED; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON;

EID: 4544319897     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.10712     Document Type: Article

References (18)

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