Abstract
Mutations in GTP cyclohydrolase I (GCHI) are found in 50 to 60% of cases with dopa-responsive dystonia (DRD). Heterozygous GCHI exon deletions, undetectable by sequencing, have recently been described in three DRD families. We tested 23 individuals with DRD for the different mutation types by conventional and quantitative PCR analyses and found mutations, including two large exon deletions, in 87%. The authors attribute this high mutation rate to rigorous inclusion criteria and comprehensive mutational analysis.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Age Factors
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Age of Onset
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Brain / drug effects
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Brain / enzymology
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Brain / physiopathology*
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DNA Mutational Analysis
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Dihydroxyphenylalanine / pharmacology
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Dihydroxyphenylalanine / therapeutic use
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Dopamine / metabolism*
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Dopamine Agents / pharmacology
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Dopamine Agents / therapeutic use
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Dystonia / diagnosis*
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Dystonia / enzymology
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Dystonia / genetics*
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Exons / genetics
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Female
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GTP Cyclohydrolase / genetics*
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Genetic Predisposition to Disease / genetics
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Genetic Testing
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Humans
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Male
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Middle Aged
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Mutation / genetics*
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Polymerase Chain Reaction
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Predictive Value of Tests
Substances
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Dopamine Agents
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Dihydroxyphenylalanine
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GTP Cyclohydrolase
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Dopamine