Ishida A, Takada G, Kobayashi Y, Toyoshima I, Takai K
Department of Pediatrics, Akita University School of Medicine, Japan.
Tohoku J Exp Med. 1988 Mar;154(3):233-9. doi: 10.1620/tjem.154.233.
A daughter and her mother developed hereditary progressive dystonia with marked diurnal fluctuation (HPD) at the age of 4 and 34, respectively. L-Dopa, tetrahydrobiopterin (BH4) or 5-hydroxytryptophan (5-HTP) was orally administered to them. L-Dopa cured completely their symptoms. 5-HTP as well as BH4 improved their symptoms, especially dystonic movements. Biopterin and 5-hydroxyindoleacetic acid concentrations in CSF increased during BH4 medication. These findings suggest that the serotonergic system of the central nervous system might play some role in the pathogenesis of dystonia in HPD.
一名女儿和她的母亲分别在4岁和34岁时患上了伴有明显日波动的遗传性进行性肌张力障碍（HPD）。她们口服了左旋多巴、四氢生物蝶呤（BH4）或5-羟色氨酸（5-HTP）。左旋多巴完全治愈了她们的症状。5-HTP和BH4都改善了她们的症状，尤其是肌张力障碍性运动。在服用BH4期间，脑脊液中的生物蝶呤和5-羟吲哚乙酸浓度升高。这些发现表明，中枢神经系统的血清素能系统可能在HPD肌张力障碍的发病机制中起一定作用。
