期刊
MOVEMENT DISORDERS
卷 21, 期 5, 页码 679-682出版社
WILEY
DOI: 10.1002/mds.20773
关键词
dopa-responsive dystonia; early-onset Parkinson's disease; GTP cyclohydrolase I gene; I-123-FP-CIT-SPECT scan
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 [I-123]-N-omega-fluoropropyl-2 beta-carbomethoxy-3 beta-(4-iodophenyl) nortropane (I-123-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. (C) 2006 Movement Disorder Society.
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