Overview
The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a significant minority in PD cases and high frequency, low penetrance variants, which contribute a small increase of the risk of developing sporadic PD. This knowledge has the potential to have a major impact in the clinical care of people with PD.
The goal of this observational study is to evaluate the impact of genetic mutation on behavior and cognition in PD patients.
Patients will be assessed over time using test, questionnaire and standardised clinica scales. An initial assessment and annual follow-up assessments will be carried out for 5 years.
Researchers will compare data collected from patients with genetic mutation versus patients without mutation.
Eligibility
Inclusion Criteria:
- diagnosed with Parkinson's Disease (PD)
- in use of dopaminergic medication (L-Dopa and/or dopamine agonists)
- genetic testing for mendelian forms of PD
- able to provide informed consent to participate in the study
Exclusion Criteria:
- Patients underwent Deep Brain Stimulation (DBS) treatment