Prevalence and genotype-phenotype correlations of GBA-related Parkinson disease in a large Chinese cohort.

Jingru RenRonggui ZhangChenxi PanJianxia XuHaochen SunPing HuaLi ZhangWenbin ZhangPingyi XuChangyan MaWeiguo Liu

Published in: European journal of neurology (2022)

GBA-PD is highly prevalent in the Chinese population. The severity of GBA variants underlies distinct phenotypic spectrums, with PD patients carrying severe and complex variants seeming to have similar phenotypes. PD patient stratification by GBA variant severity should become a prerequisite for selecting specific treatments.

Keyphrases

parkinson disease
end stage renal disease
deep brain stimulation
copy number
newly diagnosed
ejection fraction
chronic kidney disease
risk factors
peritoneal dialysis
case report
early onset
patient reported outcomes
gene expression