Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese.

摘要: Background: Mutations in the glucocerebrosidase ( GBA ) gene have recently been identified as contributing to development of Parkinson disease (PD) Ashkenazi Jews. Methods: To investigate whether this finding can be confirmed a Taiwanese population, we conducted case control study cohort 518 PD patients and 339 controls for three common mutations Taiwan, L444P, Rec Nci I R120W, using PCR restriction enzyme assay DNA sequencing. Results: Heterozygous were detected 16 (3.1%) four (1.2%). Although difference was not statistically significant (p = 0.0703), average age at onset (50.6 (12.3) years) significantly younger than that total patient group (63.8 (10.5) years; p = 0.0007) non-carrier (64.2 (10.2) p = 0.0005). After stratification by age, frequency mutation carriers higher early (EOPD, ⩽50 matched (12.9% vs 1.8%; p = 0.0335) there trend towards an increased risk carrier with EOPD (odds ratio 8.30; 95% CI 1.45 156.53). Clinically, all carrying presented typical parkinsonian phenotype experienced good or excellent response levodopa. Conclusions: may associated Taiwan.