Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa‐responsive dystonia with parkinsonism: A case report | Zendy

Kikuchi Akio | Zendy; Takeda Atsushi | Zendy; Fujihara Kazuo | Zendy; Kimpara Teiko | Zendy; Shiga Yusei | Zendy; Tanji Hiroaki | Zendy; Nagai Makiko | Zendy; Ichinose Hiroshi | Zendy; Urano Fumi | Zendy; Okamura Nobuyuki | Zendy; Arai Hiroyuki | Zendy; Itoyama Yasuto | Zendy

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Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa‐responsive dystonia with parkinsonism: A case report

Author(s) -

Kikuchi Akio,

Takeda Atsushi,

Fujihara Kazuo,

Kimpara Teiko,

Shiga Yusei,

Tanji Hiroaki,

Nagai Makiko,

Ichinose Hiroshi,

Urano Fumi,

Okamura Nobuyuki,

Arai Hiroyuki,

Itoyama Yasuto

Publication year - 2004

Publication title -

movement disorders

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.352

H-Index - 198

eISSN - 1531-8257

pISSN - 0885-3185

DOI - 10.1002/mds.10712

Subject(s) - parkinsonism , dystonia , hyperphenylalaninemia , mutant , mutation , gtp cyclohydrolase i , phenotype , endocrinology , medicine , gene , biology , genetics , neuroscience , tetrahydrobiopterin , disease , amino acid , nitric oxide synthase , nitric oxide , phenylalanine

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. © 2004 Movement Disorder Society

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