Aharon-Peretz Judith, Badarny Samih, Rosenbaum Hanna, Gershoni-Baruch Ruth
Department of Neurology, Rambam Medical Center, Haifa, Israel.
Neurology. 2005 Nov 8;65(9):1460-1. doi: 10.1212/01.wnl.0000176987.47875.28. Epub 2005 Sep 7.
Mutations in the glucocerebrosidase (GBA) gene have been recently identified as contributory to Parkinson disease (PD) in Ashkenazi Jews. In the present study, the clinical characteristics of Ashkenazi patients with PD with GBA mutations (n = 40) were compared to those of Ashkenazi patients with PD without any known GBA mutation (n = 108). The overall clinical manifestations and age at disease onset did not differ in patients with GBA mutations compared to patients without mutations.
最近已确定，在德系犹太人中，葡糖脑苷脂酶（GBA）基因突变是帕金森病（PD）的一个致病因素。在本研究中，将40例携带GBA基因突变的德系犹太PD患者与108例未携带任何已知GBA基因突变的德系犹太PD患者的临床特征进行了比较。与未发生突变的患者相比，携带GBA基因突变的患者的总体临床表现和发病年龄并无差异。
