The Australian Parkinson’s Genetics Study (APGS) - pilot (N = 1,532)

Abstract

Purpose: Parkinson's disease (PD) is a neurodegenerative disorder associated with progressive disability. While the precise aetiology is unknown, there is evidence of significant genetic and environmental influences on individual risk. The Australian Parkinson's Genetics Study (APGS) seeks to study patient-reported data from a large cohort of individuals with PD in Australia to understand the sociodemographic, genetic, and environmental basis of PD susceptibility, symptoms and progression. Participants: In the pilot phase reported here, 1,819 participants were recruited through assisted mailouts facilitated by Services Australia (formerly known as the Australian Government Department of Human Services), based on having three or more prescriptions for anti-PD medications in their Pharmaceutical Benefits Scheme (PBS) records. The average age at the time of the questionnaire was 64 +/- 6 years. We collected patient-reported PD information and socio-demographic variables via an online (93% of the cohort) or paper-based (7%) questionnaire. 1,532 participants (84.2%) had a current PD diagnosis and consented to provide a DNA sample via a saliva sampling kit sent by traditional post. Of these, 1435 (94%) returned the saliva samples for genotyping. Findings to date: 65% of participants were male, and 92% identified as being of European descent. A previous traumatic brain injury was reported by 16% of participants and was associated with a younger age of symptom onset. At the time of the questionnaire, constipation (36% of participants), depression (34%), anxiety (17%), melanoma (16%) and diabetes (10%) were the most commonly reported comorbid conditions. Future plans: We are actively seeking funding to expand the project's scope and reach, including recruiting unaffected controls, and a follow-up questionnaire focused on non-motor symptoms and cognitive function assessment. Future work will explore the role of genetic and environmental factors in the aetiology of PD susceptibility, onset, symptoms and progression, including as part of international PD research consortia.