Insights from a nationwide study of 10,929 Australians living with Parkinson’s disease: Risk factors, comorbidities, and sex differences
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Background
Parkinson’s 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 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 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.
Findings
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 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%).
Interpretation
APGS 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.
Funding
APGS is supported by the Shake It Up Australia Foundation and the Michael J. Fox Foundation for Parkinson’s Research (MJFF-021952).