Clark Lorraine N, Nicolai Angelique, Afridi Shehla, Harris Juliette, Mejia-Santana Helen, Strug Lisa, Cote Lucien J, Louis Elan D, Andrews Howard, Waters Cheryl, Ford Blair, Frucht Steven, Fahn Stanley, Mayeux Richard, Ottman Ruth, Marder K
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA.
Mov Disord. 2005 Jan;20(1):100-3. doi: 10.1002/mds.20320.
Mutations in the beta-glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type 1 Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the beta-glucocerebrosidase gene N370S allele (nt.1226 A>G) in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We observed a higher frequency of the N370S genotype in PD cases (NS and SS, 10.7%) compared to controls (NS and SS 4.3%); however, the difference was not statistically significant (chi(2) = 3.4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study.
β-葡萄糖脑苷脂酶基因突变会导致戈谢病，这是阿什肯纳兹犹太人群中最常见的溶酶体脂质贮积病之一。此前已有1型戈谢病患者出现帕金森综合征的报道。在这项初步研究中，我们评估了160例帕金森病患者和92例犹太裔对照中帕金森病（PD）与β-葡萄糖脑苷脂酶基因N370S等位基因（nt.1226 A>G）之间的可能关联。我们观察到，与对照组（NS和SS，4.3%）相比，PD患者中N370S基因型（NS和SS）的频率更高（10.7%）；然而，差异无统计学意义（χ² = 3.4，P = 0.2）。共有17例PD患者携带N370S等位基因，其中包括2例纯合子和15例杂合子。N370S等位基因（nt.1226 A>G）可能与犹太裔患者的PD有关，应在更大规模的研究中进行检测。
