Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease.

摘要: Abstract The glucocerebrosidase gene (GBA) is a known risk factor of Parkinson's disease (PD). We sequenced entire coding exons and exon/intron boundaries GBA in 147 Japanese familial PD (FPD) patients from 144 families 100 unrelated control subjects. Twenty-seven (18.8%) index were heterozygous for Gaucher mutations, suggesting that mutations are strongly associated with FPD (odds ratio = 22.9, 95% confidence interval = 3.1–171.2). frequency was significantly higher autosomal dominant (ADPD) compared recessive PD. According to clinical assessments, exhibited typical manifestations or dementia Lewy bodies (DLB), such as L-dopa responsive parkinsonism psychiatric problems and/or cognitive decline. Interestingly, they also presented reduced myocardial 123I-metaiodobenzylguanidine uptake. Our findings suggest strong factors FPD, especially Some develop features DLB. speculate dysfunction may promote body formation, resulting more severe DLB phenotypes inherited families.