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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Experimental group | Parkinson's Disease patients with genetic mutation |
| |
| Control group | Parkinson's Disease patients without genetic mutation |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Clinical examinations and clinical scales administration | Diagnostic Test | Psychometric assessment of cognitive and behavioral outcomes |
|
| Measure | Description | Time Frame |
|---|---|---|
| Montreal Cognitive Assessment | Cognitive impairment change from baseline until 5 years in Montreal Cognitive Assessment (MoCA; min. 0, max. 30, higher score means better outcome) | Annual assessments up to 5 years |
| Beck Depression Inventory | Depressive symptoms change from baseline to 5 year (BDI-II, min 0, max 63, higher score means worse outcome) | Annual assessments up to 5 years |
| State-Trait Anxiety Inventory | Anxiety symptoms change from baseline to 5 year (STAI, min 20, max 80, higher score means worse outcome) | Annual assessments up to 5 years |
| Questionnaire for Impulsive-Compulsive Disorders in Parkinson | Impulsivity change from baseline to 5 years (QUIP, min 0, max 112, higher score means worse outcome) | Annual assessments up to 5 years |
| Pittsburgh Sleep Quality Index | Sleep Quality change (PSQI, min 0, max 21, higher score means poorer sleep quality) | Annual assessments up to 5 years |
| Parkinson's Disease Questionnaire-8 | Quality of life change from baseline to 5 years (PDQ-8, min 0, max 100, higher score means worse outcome) | Annual assessments up to 5 years |
| Minnesota Multiphasic Personality Inventory 2-RF | Personality change from baseline to 5 years (MMPI-2-RF, cut-off: T>65 for clinical scales) |
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Inclusion Criteria:
Exclusion Criteria:
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Participants clinically diagnosed with Parkinson's Disease (PD) undergoing genetic testing for mendelian forms of PD
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Francesca Mameli, Dr | Contact | 0255033621 | francesca.mameli@policlinico.mi.it | |
| Fabiana Ruggiero, Dr | Contact | 0255033621 | fabiana.ruggiero@policlinico.mi.it |
| Name | Affiliation | Role |
|---|---|---|
| Francesca Mameli, Dr | Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico | Recruiting | Milan | 20122 | Italy |
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| ID | Term |
|---|---|
| D010300 | Parkinson Disease |
| ID | Term |
|---|---|
| D020734 | Parkinsonian Disorders |
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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| ID | Term |
|---|---|
| D010808 | Physical Examination |
| ID | Term |
|---|---|
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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| Annual assessments up to 5 years |
| D009422 | Nervous System Diseases |
| D009069 | Movement Disorders |
| D000080874 | Synucleinopathies |
| D019636 | Neurodegenerative Diseases |