[Hereditary progressive dystonia with marked diurnal fluctuation--clinical features and GTP cyclohydrolase I gene mutations].
Hereditary progressive dystonia with marked diurnal fluctuation (HPD) is a disorder characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of levodopa. Recently the GTP cyclohydrolase I(GCH-I) gene was isolated as the first causative gene for HPD. We analyzed the GCH-I gene in 8 clinically diagnosed HPD patients and found different point mutations in GCH-I gene in 3 subjects. The clinical features of these patients considerably resembled each other. Our results imply that although clinically diagnosed HPD subjects could present diverse symptoms, patients with a mutant GCH-I gene might share homogeneous clinical manifestations.
Tamaru
Y
Y
Department of Neurology, Kitano Hospital and Neurological Center.
Ito
H
H
Imai
T
T
Hirano
M
M
Ueno
S
S
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002940:Circadian Rhythm; D004421:Dystonia / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation
D006136:GTP Cyclohydrolase