Overview
This research focuses on the activity of an enzymatic protein: glucocerebrosidase, in dementia with lewy bodies (DLB). Indeed, the mutation of the GBA gene responsible for a decrease in the activity of glucocerebrosidase is the most frequent known genetic risk factor in DLB. However, mutations of the GBA gene are known in another pathology, Gaucher disease, in which treatments have been developed.
The objective of this research is to determine if glucocerebrosidase activity is decreased in DLB. This hypothesis could open up a therapeutic perspective, with treatments already used in Gaucher disease.
Description
Population: 118 patients and 118 control subjects Act of research: blood test
Objectifs :
- Comparison of glucocerebrosidase activity between patients and controls
- Search for variants or mutations of the GBA gene and correlation with glucocerebrosidase activity
- Correlation between clinical characteristics (UPDRS motor scale, MMSE cognitive scale) and GCase activity in patients
Eligibility
Inclusion Criteria for patients :
- Male or female aged ≥ 50 years old
- Presence of an accompanying person
- Dementia with lewy bodies according to the revised criteria of Mc Keith 2017
Inclusion Criteria for controls:
- Male or female aged ≥ 50 years old
- Absence of cognitive impairment and clinical element for a neurodegenerative disease
Exclusion Criteria for patients:
- Other neurodegenerative disease
- Gaucher disease
Exclusion Criteria for controls:
- Neurodegenerative disease
- Cognitive impairment of all causes