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.
Copyright (c) 2005 Movement Disorder Society.
Publication types
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Case Reports
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Comparative Study
MeSH terms
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Adult
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Alzheimer Disease / complications
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Alzheimer Disease / diagnostic imaging
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Alzheimer Disease / drug therapy
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Alzheimer Disease / genetics*
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Antiparkinson Agents / therapeutic use*
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DNA Mutational Analysis / methods
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Dystonia / diagnostic imaging
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Dystonia / drug therapy*
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Dystonia / genetics*
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Family Health
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GTP Cyclohydrolase / deficiency*
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GTP Cyclohydrolase / genetics
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Humans
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Iodine Isotopes / pharmacokinetics
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Levodopa / therapeutic use*
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Male
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Mutation
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Tomography, Emission-Computed, Single-Photon / methods
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Tropanes / pharmacokinetics
Substances
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Antiparkinson Agents
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Iodine Isotopes
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Tropanes
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2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane
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Levodopa
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GTP Cyclohydrolase