Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with Parkinsonism: A case report

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

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)590-593
Number of pages4
JournalMovement Disorders
Volume19
Issue number5
DOIs
Publication statusPublished - 2004 May 1

Keywords

  • Adult-onset
  • Arg(184)His mutant
  • Dopa-responsive dystonia with parkinsonism
  • GTP cyclohydrolase I gene
  • Hyperphenylalaninemia

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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