Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

Mov Disord. 2006 May;21(5):679-82. doi: 10.1002/mds.20773.

Abstract

We describe a patient with a combination of dystonic and parkinsonian signs. Paraclinical studies revealed a mutation in the GTP cyclohydrolase I gene (GCH1) and a decrease in [123I]-N-omega-fluoropropyl-2beta-carbomethoxy-3beta-(4-iodophenyl) nortropane (123I-FP-CIT) binding ratios indicative of Parkinson's disease. We conclude that the patient probably suffers from a variant of dopa-responsive dystonia (DRD) or two separate movement disorders, normally considered to be differential diagnoses, DRD and early-onset Parkinson's disease with resulting difficulties concerning treatment and prognosis.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Adult
  • Alzheimer Disease / complications
  • Alzheimer Disease / diagnostic imaging
  • Alzheimer Disease / drug therapy
  • Alzheimer Disease / genetics*
  • Antiparkinson Agents / therapeutic use*
  • DNA Mutational Analysis / methods
  • Dystonia / diagnostic imaging
  • Dystonia / drug therapy*
  • Dystonia / genetics*
  • Family Health
  • GTP Cyclohydrolase / deficiency*
  • GTP Cyclohydrolase / genetics
  • Humans
  • Iodine Isotopes / pharmacokinetics
  • Levodopa / therapeutic use*
  • Male
  • Mutation
  • Tomography, Emission-Computed, Single-Photon / methods
  • Tropanes / pharmacokinetics

Substances

  • Antiparkinson Agents
  • Iodine Isotopes
  • Tropanes
  • 2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane
  • Levodopa
  • GTP Cyclohydrolase