Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
✍ Scribed by 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
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 94 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
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 [ 123 I]-N--fluoropropyl-2-carbomethoxy-3-(4iodophenyl) nortropane ( 123 I-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.