Mutations in the Glucocerebrosidase Gene are the most common genetic variants for Patients with Park

• 出 处: 上海市科学技术协会第十届学术年会——长三角地区神经科学论坛2012
• 发表日期: 2012年8期

　　Mutations in the glucocerebrosidase gene (GBA) are associated with Gauchers disease, the lysosomal storage disease.Recent studies indicate that pathological variants in GBA have increased the risk for patients with Parkinsons disease (PD).To characterize sequence variants within the GBA gene in our cohorts of PD patients, we collected 268 familial and sporadic PD patients from the Ottawa Hospital, Canada and liaocheng hospital, Shandong, China.Then we sequenced all 12 exons of the GBA gene in these PD patients.We identified a dozen of GBA mutations and SNPs including one novel mutation (Arg → Trp) in one PD patient.Nine patients have the L444P mutation while one patient with N370S.