Abstract
We describe a 54-year-old man with dominant adult-onset dopa-responsive dystonia (DRD) with parkinsonism caused by an Arg184His mutation in guanosine 5'-triphosphate cyclohydrolase I (GCH-I). This is the first mutation in the GCH-I gene that has been proven to be responsible for both recessive and dominant phenotypes.
Copyright 2003 Movement Disorder Society
MeSH terms
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Antiparkinson Agents / therapeutic use*
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Arginine / genetics*
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Brain / blood supply
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Brain / metabolism
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Brain / pathology
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Dystonia / drug therapy*
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Dystonia / etiology*
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GTP Cyclohydrolase / genetics*
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Genes, Recessive / genetics*
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Humans
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Levodopa / therapeutic use*
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Magnetic Resonance Imaging
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Male
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Middle Aged
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Parkinsonian Disorders / etiology*
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Pedigree
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Phenylketonurias / complications*
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Phenylketonurias / diagnosis
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Phenylketonurias / genetics*
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Point Mutation / genetics*
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Tomography, Emission-Computed
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Tomography, Emission-Computed, Single-Photon
Substances
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Antiparkinson Agents
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Levodopa
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Arginine
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GTP Cyclohydrolase