Imaiso Y, Taniwaki T, Yamada T, Yoshimura T, Hirano M, Ueno S, Kaneda N, Kira J
Department of Neurology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Neurology. 1998 Feb;50(2):517-9. doi: 10.1212/wnl.50.2.517.
We report a 37-year-old Japanese woman with hereditary progressive dystonia with marked diurnal fluctuation and dopa-responsive dystonia. She developed dystonia in the lower limbs at the age of 11 years, followed by spasmodic torticollis and resting tremor of the feet, which responded remarkably to low doses of levodopa (100 mg/day). Concentrations of biopterin and neopterin in CSF were decreased. Polymerase chain reaction analysis of the guanosine 5'-triphosphate cyclohydrolase I gene revealed a novel mutation (Thr186-->Lys).
我们报告了一名37岁的日本女性，患有遗传性进行性肌张力障碍，伴有明显的日波动和多巴反应性肌张力障碍。她11岁时下肢出现肌张力障碍，随后出现痉挛性斜颈和足部静止性震颤，低剂量左旋多巴（100毫克/天）治疗效果显著。脑脊液中生物蝶呤和新蝶呤浓度降低。鸟苷5'-三磷酸环水解酶I基因的聚合酶链反应分析发现一个新的突变（苏氨酸186→赖氨酸）。
