Abstract
We administered tetrahydrobiopterin (BH4) to 4 patients with progressive dystonia with diurnal variation (PDDV). One patient improved clinically. Deficient CSF concentrations of HVA and 5-HIAA were unchanged despite marked elevation of CSF biopterin concentration. Variable effectiveness of BH4 in PDDV may reflect reduced number or function of biopterin-metabolizing neurons or variable entry of BH4 into these neurons.
MeSH terms
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Adult
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Biopterins / administration & dosage
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Biopterins / analogs & derivatives*
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Biopterins / cerebrospinal fluid
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Biopterins / metabolism*
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Biopterins / therapeutic use
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Child
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Circadian Rhythm*
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Dystonia / drug therapy*
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Dystonia / genetics
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Dystonia / physiopathology
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Female
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Homovanillic Acid / cerebrospinal fluid
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Humans
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Hydroxyindoleacetic Acid / cerebrospinal fluid
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Locomotion / drug effects
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Male
Substances
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Biopterins
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Hydroxyindoleacetic Acid
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sapropterin
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Homovanillic Acid