Parkinson Disease
Conditions
Brief summary
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.
Interventions
DIAGNOSTIC_TESTClinical examinations and clinical scales administration
Psychometric assessment of cognitive and behavioral outcomes
Sponsors
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Montreal Cognitive Assessment | Annual assessments up to 5 years | Cognitive impairment change from baseline until 5 years in Montreal Cognitive Assessment (MoCA; min. 0, max. 30, higher score means better outcome) |
| Beck Depression Inventory | Annual assessments up to 5 years | Depressive symptoms change from baseline to 5 year (BDI-II, min 0, max 63, higher score means worse outcome) |
| State-Trait Anxiety Inventory | Annual assessments up to 5 years | Anxiety symptoms change from baseline to 5 year (STAI, min 20, max 80, higher score means worse outcome) |
| Questionnaire for Impulsive-Compulsive Disorders in Parkinson | Annual assessments up to 5 years | Impulsivity change from baseline to 5 years (QUIP, min 0, max 112, higher score means worse outcome) |
| Pittsburgh Sleep Quality Index | Annual assessments up to 5 years | Sleep Quality change (PSQI, min 0, max 21, higher score means poorer sleep quality) |
| Parkinson's Disease Questionnaire-8 | Annual assessments up to 5 years | Quality of life change from baseline to 5 years (PDQ-8, min 0, max 100, higher score means worse outcome) |
| Minnesota Multiphasic Personality Inventory 2-RF | Annual assessments up to 5 years | Personality change from baseline to 5 years (MMPI-2-RF, cut-off: T\>65 for clinical scales) |
Countries
Italy
Contacts
Primary ContactFrancesca Mameli, Dr
Backup ContactFabiana Ruggiero, Dr
Outcome results
None listed