Furuya Hirokazu, Murai Hiroyuki, Takasugi Kazuo, Ohyagi Yasumasa, Urano Fumi, Kishi Taroh, Ichinose Hiroshi, Kira Jun-Ichi
Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan.
Clin Neurol Neurosurg. 2006 Dec;108(8):784-6. doi: 10.1016/j.clineuro.2005.10.004. Epub 2005 Nov 14.
We report a case of a 46-year-old Japanese woman with hereditary progressive dystonia with marked diurnal fluctuations and dopa-responsive dystonia (HPD/DRD). She developed difficulty in walking at the age of 44 years due to bradykinesia as well as hand tremors, muscle rigidity, increased tendon reflexes and mild dystonia in the lower extremities, all of which responded remarkably to low doses of levodopa (150 mg/day). Biopterin and neopterin concentrations in the cerebrospinal fluid (CSF) were decreased. Analysis of the guanosine 5'-triphosphate cyclohydrolase I (GCH1) gene revealed a novel mutation (W53X) in one allele. The GCH1 activity that was expressed in mononuclear blood cells was almost half the normal value (usually 2-20% of the normal value (39.0+/-9.2 pmol/ml) in patients with HPD/DRD). The relatively conserved GCH1 activity that is expressed in stimulated peripheral blood mononuclear cells may be related to the late clinical symptoms in this patient.
我们报告一例46岁的日本女性，患有伴有明显日波动的遗传性进行性肌张力障碍和多巴反应性肌张力障碍（HPD/DRD）。她在44岁时因运动迟缓以及手部震颤、肌肉僵硬、腱反射亢进和下肢轻度肌张力障碍而出现行走困难，所有这些症状对低剂量左旋多巴（150毫克/天）均有显著反应。脑脊液（CSF）中的生物蝶呤和新蝶呤浓度降低。鸟苷5'-三磷酸环水解酶I（GCH1）基因分析显示一个等位基因中有一个新的突变（W53X）。在单核血细胞中表达的GCH1活性几乎是正常值的一半（在HPD/DRD患者中通常为正常值（39.0±9.2皮摩尔/毫升）的2%-20%）。在刺激的外周血单核细胞中表达的相对保守的GCH1活性可能与该患者的晚期临床症状有关。
