Abstract
The past 18 months have seen significant advances in our understanding of dopa(dihydroxyphenylalanine)-responsive dystonia. Clinical investigations have broadened the spectrum of disease with particular attention manifestations in infancy. Pathophysiological investigations have revealed features that distinguish dopa-responsive dystonia from childhood-onset parkinsonism. A pathological study has confirmed the 'developmental' nature of the disease. Finally, mutations causing the autosomal dominant form of dopa-responsive dystonia have been identified in the gene coding for GTP cyclohydrolase I. Mutations in tyrosine hydroxylase have been identified in two brothers and put forward as evidence of an autosomal recessive form of the disease.
MeSH terms
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Child, Preschool
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Chromosome Aberrations / genetics
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Chromosome Disorders
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Corpus Striatum / drug effects
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Corpus Striatum / physiopathology
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DNA Mutational Analysis
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Diagnosis, Differential
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Dystonia / drug therapy*
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Dystonia / genetics
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Dystonia / physiopathology
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GTP Cyclohydrolase / genetics
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Genes, Dominant / genetics
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Humans
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Infant
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Levodopa / adverse effects
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Levodopa / therapeutic use*
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Neural Pathways / drug effects
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Neural Pathways / physiopathology
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Parkinson Disease, Secondary / drug therapy
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Parkinson Disease, Secondary / genetics
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Parkinson Disease, Secondary / physiopathology
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Phenotype
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Spinal Cord / drug effects
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Spinal Cord / physiopathology
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Substantia Nigra / drug effects
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Substantia Nigra / physiopathology
Substances
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Levodopa
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GTP Cyclohydrolase