导致隐性高苯丙氨酸血症的精氨酸（184）组氨酸突变型GTP环化水解酶I与帕金森病性多巴反应性肌张力障碍有关：一例报告
Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
作者信息
Kikuchi Akio, Takeda Atsushi, Fujihara Kazuo, Kimpara Teiko, Shiga Yusei, Tanji Hiroaki, Nagai Makiko, Ichinose Hiroshi, Urano Fumi, Okamura Nobuyuki, Arai Hiroyuki, Itoyama Yasuto
机构信息
Department of Neurology, Tohoku University School of Medicine, Sendai, Japan.
出版信息
Mov Disord. 2004 May;19(5):590-3. doi: 10.1002/mds.10712.
PMID:15133828
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.
摘要
我们描述了一名54岁男性，患有由鸟苷5'-三磷酸环化水解酶I（GCH-I）基因中的Arg184His突变引起的显性成人起病的多巴反应性肌张力障碍（DRD）伴帕金森综合征。这是GCH-I基因中首个被证实可导致隐性和显性表型的突变。
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