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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