Sato Christine, Morgan Angharad, Lang Anthony E, Salehi-Rad Shabnam, Kawarai Toshitaka, Meng Yan, Ray Peter N, Farrer Lindsay A, St George-Hyslop Peter, Rogaeva Ekaterina
Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
Mov Disord. 2005 Mar;20(3):367-70. doi: 10.1002/mds.20319.
Parkinson's disease (PD) is a common progressive neurodegenerative disorder characterized clinically by a combination of motor symptoms. Identifying novel PD genetic risk factors is important for understanding its pathogenesis. A recent study suggested that up to 21% of subjects with PD may have mutations in the glucocerebrosidase (GBA) gene. We investigated the GBA gene for mutations in 88 PD cases and 122 normal controls and detected the presence of heterozygous GBA mutations in 5 PD cases and in 1 control. Sequencing of the entire open reading frame of the GBA gene in a subset of 25 cases with early-onset PD (<50 years of age) uncovered no additional mutations. Our results demonstrate a marginally significant association of GBA mutations with PD and suggest that variations in the GBA gene may constitute a rare susceptibility factor for PD (P = 0.048).
帕金森病（PD）是一种常见的进行性神经退行性疾病，临床特征为多种运动症状的组合。识别新的帕金森病遗传风险因素对于理解其发病机制很重要。最近一项研究表明，高达21%的帕金森病患者可能在葡萄糖脑苷脂酶（GBA）基因中存在突变。我们对88例帕金森病患者和122名正常对照者的GBA基因进行了突变检测，在5例帕金森病患者和1名对照者中检测到杂合GBA突变。对25例早发性帕金森病（<50岁）患者的GBA基因整个开放阅读框进行测序，未发现其他突变。我们的结果表明GBA突变与帕金森病存在微弱的显著关联，并提示GBA基因变异可能是帕金森病的一种罕见易感因素（P = 0.048）。
