The Australian Parkinson’s Genetics Study: Insights from A Nationwide Cohort of Nearly 12,000 Australians Living with Parkinson’s Disease
Listed in
This article is not in any list yet, why not save it to one of your lists.Abstract
Background
Parkinson’s disease (PD) is a complex neurodegenerative condition with a heterogeneous clinical presentation and multifactorial aetiology involving genetic, environmental, and lifestyle factors. The Australian Parkinson’s Genetics Study (APGS) is an ongoing nationwide, population-based initiative established to advance understanding of the determinants and progression of PD.
Methods
We present a cross-sectional characterisation of 11,986 participants with self-reported PD recruited across Australia through a combination of assisted mailouts, media outreach, and digital engagement. Participants complete comprehensive questionnaires capturing sociodemographic, clinical, environmental, lifestyle, and behavioural data, and provide saliva samples for genetic analysis. A control cohort is currently being recruited and is therefore not reported here.
Results
The cohort is 63% male, with a mean age of 71 years and symptom onset at 64 years. Most participants report being diagnosed by a neurologist (79%), and 25% have a family history of PD. Non-motor symptoms such as depression, anxiety, and sleep disturbances are common, and sex-based differences were observed across clinical features, comorbidities, environmental exposures, and impulsive-compulsive behaviours. Previously reported risk factors were notable in the APGS PD cohort, including pesticide exposure (36%), traumatic brain injury (16%), and employment in high-risk industries (33%). COVID-19 vaccination uptake was near-universal (99%), and most infections were mild.
Conclusions
APGS is the largest PD cohort in Australia and represents a rich resource for investigating the sociodemographic, genetic, and environmental underpinnings of PD. Its comprehensive design and ongoing expansion—including digital phenotyping and genomic profiling—position it as a transformative platform to inform risk prediction, biomarker discovery, and therapeutic development for PD.
