LRRK2 (Leucine-Rich Repeat Kinase 2) Parkinson's Disease Fingerprint

LRRK2 Associated Parkinson's Disease: Definition of a Clinical, Molecular and Neurophysiological Fingerprint

The goal of this interventional monocentric study is to identify molecular and clinical markers of LRRK2-related Parkinson's disease through blood markers analysis and deep clinical phenotyping. Patients who meet the inclusion criteria, after signing the informed consent form will be clinically evaluated by a neurologist expert in movement disorders. Eventually, patients will undergo a blood sample collection, a brain MRI, and a high density EEG. All data will be collected using an ad hoc electronic Case Report Form (CRF) developed for the study

Inclusion Criteria:

• age 30-80 years,
• clinically established diagnosis of PD according to the Movement Disorders Society (MDS) diagnostic criteria,
• Hoehn & Yahr (H&Y) stage between 1 and 3,
• 10 patients with a LRRK2 associated parkinsonism and 10 with sporadic PD tested with a NGS panel and MLPA for PD associated genes,
• ability to provide informed consent.

Exclusion Criteria:

• Active or history of other neurological disorders,
• active infectious disease or history within the previous 4 weeks,
• continuative therapy (at least 1 week) with NSAIDs or steroids within the previous 12 weeks,
• active malignancy, autoinflammatory or autoimmune diseases or history within the previous 3 years;
• alcohol or drug abuse or dependence
• any contraindication to the execution of the MRI (including claustrophobia).