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| Name | Class |
|---|---|
| IRCCS National Neurological Institute "C. Mondino" Foundation | OTHER |
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Glucocerebrosidase (GBA) mutations are the most common risk factor for Parkinson's Disease (PD). GBA-related PD(GBA-PD) exhibits a more malignant phenotype as compared to no-carriers. Still, the mechanisms behind the increased malignancy in GBA-PD are not well understood. The definition of biomarkers able to stratify PD clinical trajectories in PD is therefore crucial to identify effective treatments and support diagnosis.The investigators will examine the role of GBA-mutations in accelerating a-synuclein (a-syn) and synaptic pathologies in PD by combining neuroimaging (positron emission tomography-PET), biochemical and clinical features. This will illuminate the pathophysiology underlying GBA-mutations in PD and identify biomarkers for the malignant PD phenotype. Also, the investigators will combine longitudinal clinical and imaging/biochemical features to define a prognostic algorithm for predicting disease faster progression in GBA-PD and monitoring disease trajectories in unaffected GBA carriers.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| FDG-PET | Diagnostic Test | Among other neuroimaging techniques, FDG-PET represents a unique tool to study the early metabolic alterations associated with neurodegeneration, both at the group and individual subject level. | ||
| Blood test and clinical examination. | Diagnostic Test | baseline, 12-months and 24 months. |
| Measure | Description | Time Frame |
|---|---|---|
| FDG-PET to measure cerebral metabolism between Parkinson's subjects with a mutation in GBA gene (MP-GBA) compared to patients with idiopathic Parkinson's. | Differences in expression levels of posterior cerebral metabolism between Parkinson's patients with GBA mutation and idiopathic Parkinson's patients. | 3 years |
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Inclusion Criteria:
Exclusion Criteria:
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PD patients with and without GBA mutations and asymptomatic GBA mutation carriers, relatives of GBA-PD patients.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Micol Avenali | Contact | 0382.380221 | micol.avenali@mondino.it | |
| Cinzia Fattore | Contact | 0382.380221 | cinzia.fattore@mondino.it |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Neurological Institute Foundation Casimiro Mondino | Recruiting | Pavia | 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 |
| D009422 | Nervous System Diseases |
| D009069 | Movement Disorders |
| D000080874 | Synucleinopathies |
| D019636 | Neurodegenerative Diseases |
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| ID | Term |
|---|---|
| D006403 | Hematologic Tests |
| D010808 | Physical Examination |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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