Ontology highlight
ABSTRACT: Background
Parkinson's disease (PD) is a neurodegenerative movement disorder affecting 1-5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. Here we report a multi-stage procedure to identify candidate genes likely involved in the etiopathogenesis of PD.Methods
The study includes a discovery stage based on the analysis of whole exome data from 26 dominant late onset PD families, a validation analysis performed on 1542 independent PD patients and 706 controls from different cohorts and the assessment of polygenic variants load in the Italian cohort (394 unrelated patients and 203 controls).Results
Family-based approach identified 28 disrupting variants in 26 candida
SUBMITTER: Gialluisi A
PROVIDER: S-EPMC8215754 | biostudies-literature | 2021 Jun
REPOSITORIES: biostudies-literature