“Parkinson’s Families Project: a UK-wide study of early onset and familial Parkinson’s disease.”
Theresa Schmaderer, et al. – UCL Queen Square Institute of Neurology.
Background: Studies of families with multiple and/or early-onset cases of PD may provide insights into determinants of PD risk.
This Study: The Parkinson’s Families Project (PFP) is an ongoing study in the UK that has performed initial genetic analyses on 858 participants from 714 families.
- While the majority (n=22, 75.9%) of LRRK2 mutation carriers developed familial late-onset PD (fLOPD), 5 carriers (17.3%) had sporadic early-onset PD (sEOPD), suggesting that patients with sEOPD should also be screened for LRRK2 mutations.
- 92.6% of cases lacked any known pathogenic mutations, underscoring the need for further research into genetic causes of PD.
- Only a subset (n=117) of cases received whole genome sequencing, with the other cases receiving analyses limited to a pre-specified set of genes.
- The PFP aims to recruit 1,200 families by 2030.
Bottom Line: The PFP provides a well-characterized cohort for investigating factors contributing to PD risk.
Open Question: Will whole genome sequencing of the remaining participants reveal new pathogenic mutations?
