四氢生物蝶呤治疗伴有昼夜变化的生物蝶呤缺乏性进行性肌张力障碍。

Tetrahydrobiopterin administration in biopterin-deficient progressive dystonia with diurnal variation.

作者信息

Fink J K, Ravin P, Argoff C E, Levine R A, Brady R O, Hallett M, Barton N W

机构信息

Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD.

出版信息

Neurology. 1989 Oct;39(10):1393-5. doi: 10.1212/wnl.39.10.1393.

DOI:10.1212/wnl.39.10.1393

PMID:2477772

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.

摘要

我们对4例具有日变化的进行性肌张力障碍（PDDV）患者给予了四氢生物蝶呤（BH4）。1例患者临床症状改善。尽管脑脊液中生物蝶呤浓度显著升高，但脑脊液中高香草酸（HVA）和5-羟吲哚乙酸（5-HIAA）浓度不足未发生改变。BH4在PDDV中的疗效各异，这可能反映了生物蝶呤代谢神经元数量减少或功能降低，或者BH4进入这些神经元的情况存在差异。