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

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.

• Authors: Lena Elisabeth Hjermind, Lis Gitte Johannsen, Nenad Blau, Ron Allan Wevers, Christoph-Burkhard Lucking, Jens Michael Hertz, Lars Friberg, Lisbeth Regeur, Jørgen Erik Nielsen, Sven Asger Sørensen
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 21 Issue 5 Pg. 679-82 (May 2006) ISSN: 0885-3185 [Print] United States
• PMID: 16267845 (Publication Type: Case Reports, Comparative Study, Journal Article)
• Copyright: Copyright (c) 2005 Movement Disorder Society.

Chemical References

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

Topics

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