✦ LIBER ✦
Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: A case report
✍ Scribed by Akio Kikuchi; Atsushi Takeda; Kazuo Fujihara; Teiko Kimpara; Yusei Shiga; Hiroaki Tanji; Makiko Nagai; Hiroshi Ichinose; Fumi Urano; Nobuyuki Okamura; Hiroyuki Arai; Yasuto Itoyama
- Book ID
- 102945024
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 514 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
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. © 2004 Movement Disorder Society