The Genetics of Parkinson’s Disease and Implications for Clinical Practice
Jacob Day, Stephen Mullin
Abstract
The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a significant minority in PD cases and high frequency, low penetrance variants, which contribute a small increase of the risk of developing sporadic PD. This knowledge has the potential to have a major impact in the clinical care of people with PD. We summarise these genetic influences and discuss the implications for therapeutics and clinical trial design.
Topics & Concepts
DiseaseGeneticsMedical geneticsBiologyParkinson's diseaseClinical PracticeEvolutionary biologyMedicineFamily medicineGenePathologyParkinson's Disease Mechanisms and TreatmentsNuclear Receptors and SignalingNeurological diseases and metabolism