Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa.

摘要: Abstract Mutations in the glucocerebrosidase gene (GBA) have recently been associated with an increased risk of Parkinson disease (PD). GBA mutations observed to be particularly prevalent Ashkenazi Jewish population. Interestingly, this population also has a high incidence Lrrk2 p.G2019S mutation which is similar North African Arab-Berber populations. Herein, our sequencing gene, 33 familial parkinsonism probands, identified two novel three individuals (p.K-26R and p.K186R). Segregation analysis these variants did not support pathogenic role. Genotyping p.K-26R, p.K186R common p.N370S ethnically matched series consisting 395 patients PD 372 control subjects show statistically significant association (P > 0.05). The was only 1 sporadic patient 3 indicating that frequency much lower than Jews, therefore arose latter after expansion variant Africa.