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Updated: Oct 30, 2025

The Use of Primary Human Fibroblasts for Monitoring Mitochondrial Phenotypes in the Field of Parkinson's Disease
Published on: October 3, 2012
The Genetics of Parkinson's Disease and Implications for Clinical Practice
Jacob Oliver Day1, Stephen Mullin1,2
1Faculty of Health, University of Plymouth, Plymouth PL4 8AA, UK.
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.
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