The Australian Parkinson's Genetics Study: Insights from A Nationwide Cohort of Nearly 12,000 Australians Living with Parkinson's Disease

BackgroundParkinsons disease (PD) is a complex neurodegenerative condition with a heterogeneous clinical presentation and multifactorial aetiology. Despite substantial progress in PD research, the underlying causes and biological pathways of PD remain incompletely understood, warranting the need for large-scale studies to further elucidate genetic and environmental contributors. The Australian Parkinsons Genetics Study (APGS) is an ongoing nationwide, population-based initiative established to advance understanding of the determinants and progression of PD. MethodsWe present a cross-sectional characterisation of 10,929 participants with self-reported PD recruited across Australia through a combination of assisted mail-outs, 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. FindingsThe 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 impulse control behaviours. Previously reported risk factors were notable in the cohort, including pesticide exposure (36%), traumatic brain injury (16%), and employment in high-risk industries (33%). InterpretationAPGS represents the largest PD cohort in Australia and the largest active PD cohort globally. 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. The recruitment success highlights the effectiveness of our innovative and cost-effective outreach strategies and the feasibility of large-scale, remote recruitment through government-supported mail-outs and media engagement. FundingAPGS is supported by the Shake It Up Australia Foundation and the Michael J. Fox Foundation for Parkinsons Research (MJFF-021952).