Tamaru Y, Ito H, Imai T, Hirano M, Ueno S
Department of Neurology, Kitano Hospital and Neurological Center.
Nihon Rinsho. 1997 Jan;55(1):135-8.
Hereditary progressive dystonia with marked diurnal fluctuation (HPD) is a disorder characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of levodopa. Recently the GTP cyclohydrolase I(GCH-I) gene was isolated as the first causative gene for HPD. We analyzed the GCH-I gene in 8 clinically diagnosed HPD patients and found different point mutations in GCH-I gene in 3 subjects. The clinical features of these patients considerably resembled each other. Our results imply that although clinically diagnosed HPD subjects could present diverse symptoms, patients with a mutant GCH-I gene might share homogeneous clinical manifestations.
伴有显著日波动的遗传性进行性肌张力障碍（HPD）是一种以儿童期起病的肌张力障碍以及对低剂量左旋多巴有显著且持续反应为特征的疾病。最近，GTP环化水解酶I（GCH-I）基因被确定为HPD的首个致病基因。我们对8例临床诊断为HPD的患者的GCH-I基因进行了分析，发现3例患者的GCH-I基因存在不同的点突变。这些患者的临床特征彼此非常相似。我们的结果表明，尽管临床诊断为HPD的患者可能表现出多样的症状，但GCH-I基因突变的患者可能具有相同的临床表现。
