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

Mov Disord. 2004 May;19(5):590-3. doi: 10.1002/mds.10712.

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.

Publication types

  • Case Reports

MeSH terms

  • Antiparkinson Agents / therapeutic use*
  • Arginine / genetics*
  • Brain / blood supply
  • Brain / metabolism
  • Brain / pathology
  • Dystonia / drug therapy*
  • Dystonia / etiology*
  • GTP Cyclohydrolase / genetics*
  • Genes, Recessive / genetics*
  • Humans
  • Levodopa / therapeutic use*
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Parkinsonian Disorders / etiology*
  • Pedigree
  • Phenylketonurias / complications*
  • Phenylketonurias / diagnosis
  • Phenylketonurias / genetics*
  • Point Mutation / genetics*
  • Tomography, Emission-Computed
  • Tomography, Emission-Computed, Single-Photon

Substances

  • Antiparkinson Agents
  • Levodopa
  • Arginine
  • GTP Cyclohydrolase