Tetrahydrobiopterin administration in biopterin‐deflcient progressive dystonia with diurnal variation
- 1 October 1989
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 39 (10) , 1393
- https://doi.org/10.1212/wnl.39.10.1393
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.This publication has 4 references indexed in Scilit:
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- Dihydrobiopterin synthesis defectNeurology, 1987
- Tetrahydrobiopterin in dystoniaNeurology, 1986
- DOPA-Sensitive Progressive Dystonia of Childhood with Fluctuations of Symptoms - Segawa's Syndrome and Possible Variants*Neuropediatrics, 1986