Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
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.
Kikuchi
Akio
A
Department of Neurology, Tohoku University School of Medicine, Sendai, Japan.
Takeda
Atsushi
A
Fujihara
Kazuo
K
Kimpara
Teiko
T
Shiga
Yusei
Y
Tanji
Hiroaki
H
Nagai
Makiko
M
Ichinose
Hiroshi
H
Urano
Fumi
F
Okamura
Nobuyuki
N
Arai
Hiroyuki
H
Itoyama
Yasuto
Y
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
D000978:Antiparkinson Agents; D007980:Levodopa; D001120:Arginine; D006136:GTP Cyclohydrolase