Abstract
The clinical expression of dopa-responsive dystonia (DRD) was found to be different in a pair of affected monozygotic twins. An earlier onset was associated with a more disabling course of disease. Whereas monozygosity was genetically proven, the search for pathogenic mutations in the GTP-cyclohydrolase-1 gene was negative. The contribution of environmental factors appeared minimal. Intrafamilial variability of DRD phenotype may be related to yet unknown non-Mendelian epigenetic or proteomic factors.
MeSH terms
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Adult
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Benserazide / therapeutic use
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Biopterins / cerebrospinal fluid
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Biopterins / deficiency
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Clubfoot / genetics
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Dihydroxyphenylalanine / therapeutic use*
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Disease Progression
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Diseases in Twins*
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Dopamine Agents / therapeutic use
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Dystonic Disorders / cerebrospinal fluid
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Dystonic Disorders / drug therapy
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Dystonic Disorders / enzymology
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Dystonic Disorders / genetics*
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Female
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GTP Cyclohydrolase / deficiency*
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GTP Cyclohydrolase / genetics
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Humans
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Neopterin / cerebrospinal fluid
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Neopterin / deficiency
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Phenotype
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Twins, Monozygotic*
Substances
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Dopamine Agents
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Biopterins
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Dihydroxyphenylalanine
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Neopterin
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Benserazide
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GTP Cyclohydrolase