Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population
Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population
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DOI：
10.1212/01.wnl.0000196492.80676.7c
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发表时间：
2006-02-14
期刊：
影响因子：
9.9
通讯作者：
Farrer, MJ
中科院分区：
文献类型：
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作者：
Toft, M;Pielsticker, L;Farrer, MJ
最近在德系犹太人中发现了葡萄糖脑苷酶(GBA)基因突变与帕金森病(PD)之间的关联。作者对311名挪威帕金森病患者和474名对照进行了GBA蛋白N370S和L444P两种常见功能突变的筛查。7名患者(2.3%)和8名对照(1.7%)携带突变的GBA等位基因(p=0.58)。这项研究并没有表明挪威GBA突变携带者对帕金森病的易感性增加。
An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson disease (PD) was recently reported in Ashkenazi Jews. The authors screened a series of 311 Norwegian patients with PD and 474 controls for 2 common functional mutations of the GBA protein, N370S and L444P. Seven patients (2.3%) and 8 controls (1.7%) carried a mutant GBA allele (p = 0.58). This study does not indicate increased susceptibility to PD in GBA mutations carriers in Norway.