Publications by authors named "S Gaubert"
Article Synopsis
- The study investigated cerebrospinal fluid (CSF) alpha-synuclein levels to distinguish between Dementia with Lewy Bodies (DLB) and Alzheimer’s disease (AD), as abnormal aggregation of this protein is linked to DLB.
- The results showed significantly lower CSF alpha-synuclein levels in DLB patients compared to those with AD and established a potential diagnostic threshold with high sensitivity and specificity.
- The findings suggest that measuring CSF alpha-synuclein could aid in the early diagnosis of DLB in conjunction with other biomarkers, although it was not associated with specific brain atrophy patterns.
Importance: Dementia with Lewy bodies (DLB) is a neurodegenerative disease linked to abnormal accumulation of phosphorylated α-synuclein. GBA1 is the gene encoding the lysosomal enzyme glucocerebrosidase (GCase), whose mutations are a risk factor of DLB.
Objective: To report all available data exploring the association between GBA1 mutations and DLB.