BACKGROUND: Mutations in the glucocerebrosidase (GBA) gene have recently been identified as contributing to the development of Parkinson disease (PD) in Ashkenazi Jews. METHODS: To investigate whether this finding can be confirmed in a Taiwanese population, we conducted a case control study in a cohort of 518 PD patients and 339 controls for the three common GBA mutations in Taiwan, L444P, RecNciI and R120W, using PCR restriction enzyme assay and DNA sequencing. RESULTS: Heterozygous GBA mutations were detected in 16 PD patients (3.1%) and four controls (1.2%). Although this difference was not statistically significant (p = 0.0703), the average age at disease onset of the 16 PD patients (50.6 (12.3) years) was significantly younger than that of the total patient group (63.8 (10.5) years; p = 0.0007) and the non-carrier patient group (64.2 (10.2) years; p = 0.0005). After stratification by age, the frequency of mutation carriers was significantly higher for the early onset PD (EOPD, age at onset < or = 50 years) group than for age matched controls (12.9% vs 1.8%; p = 0.0335) and there was a trend towards an increased risk of the mutation carrier with EOPD (odds ratio 8.30; 95% CI 1.45 to 156.53). Clinically, all 16 patients carrying a GBA mutation presented with a typical parkinsonian phenotype and experienced a good or excellent response to levodopa. CONCLUSIONS: Mutations of the GBA gene may be associated with the development of EOPD in Taiwan.
BACKGROUND: Mutations in the glucocerebrosidase (GBA) gene have recently been identified as contributing to the development of Parkinson disease (PD) in Ashkenazi Jews. METHODS: To investigate whether this finding can be confirmed in a Taiwanese population, we conducted a case control study in a cohort of 518 PDpatients and 339 controls for the three common GBA mutations in Taiwan, L444P, RecNciI and R120W, using PCR restriction enzyme assay and DNA sequencing. RESULTS: Heterozygous GBA mutations were detected in 16 PDpatients (3.1%) and four controls (1.2%). Although this difference was not statistically significant (p = 0.0703), the average age at disease onset of the 16 PDpatients (50.6 (12.3) years) was significantly younger than that of the total patient group (63.8 (10.5) years; p = 0.0007) and the non-carrier patient group (64.2 (10.2) years; p = 0.0005). After stratification by age, the frequency of mutation carriers was significantly higher for the early onset PD (EOPD, age at onset < or = 50 years) group than for age matched controls (12.9% vs 1.8%; p = 0.0335) and there was a trend towards an increased risk of the mutation carrier with EOPD (odds ratio 8.30; 95% CI 1.45 to 156.53). Clinically, all 16 patients carrying a GBA mutation presented with a typical parkinsonian phenotype and experienced a good or excellent response to levodopa. CONCLUSIONS: Mutations of the GBA gene may be associated with the development of EOPD in Taiwan.
Authors: Christine Sato; Angharad Morgan; Anthony E Lang; Shabnam Salehi-Rad; Toshitaka Kawarai; Yan Meng; Peter N Ray; Lindsay A Farrer; Peter St George-Hyslop; Ekaterina Rogaeva Journal: Mov Disord Date: 2005-03 Impact factor: 10.338
Authors: E Sidransky; M A Nalls; J O Aasly; J Aharon-Peretz; G Annesi; E R Barbosa; A Bar-Shira; D Berg; J Bras; A Brice; C-M Chen; L N Clark; C Condroyer; E V De Marco; A Dürr; M J Eblan; S Fahn; M J Farrer; H-C Fung; Z Gan-Or; T Gasser; R Gershoni-Baruch; N Giladi; A Griffith; T Gurevich; C Januario; P Kropp; A E Lang; G-J Lee-Chen; S Lesage; K Marder; I F Mata; A Mirelman; J Mitsui; I Mizuta; G Nicoletti; C Oliveira; R Ottman; A Orr-Urtreger; L V Pereira; A Quattrone; E Rogaeva; A Rolfs; H Rosenbaum; R Rozenberg; A Samii; T Samaddar; C Schulte; M Sharma; A Singleton; M Spitz; E-K Tan; N Tayebi; T Toda; A R Troiano; S Tsuji; M Wittstock; T G Wolfsberg; Y-R Wu; C P Zabetian; Y Zhao; S G Ziegler Journal: N Engl J Med Date: 2009-10-22 Impact factor: 91.245
Authors: W C Nichols; N Pankratz; D K Marek; M W Pauciulo; V E Elsaesser; C A Halter; A Rudolph; J Wojcieszek; R F Pfeiffer; T Foroud Journal: Neurology Date: 2008-11-05 Impact factor: 9.910