Publications by authors named "O Belbin"
Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
Background: Synaptic degeneration is a primary neuropathological factor associated with cognitive decline in Alzheimer's disease (AD). In 2021, we generated a synaptic Polygenic Risk Score (PRS) that comprised only 8 variants within 6 synaptic genes (APOE, PICALM, BIN1, PTK2B, DLG2 and MINK1) that predicted AD with 72% accuracy in two neuropathological cohorts. This supports the hypothesis that genetic variants that regulate an individual's vulnerability to AD-related synapse degeneration could be used to identify individuals at-risk for AD prior to the appearance of clinical symptoms.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
Background: Synapse degeneration is one of the earliest changes in Alzheimer's disease (AD) and is the major neuropathologic correlate of cognitive impairment. The aim of this study was to characterize microRNA (miRNA) dysregulation at AD synapses post-mortem brain tissue and explore the specificity for AD.
Method: We prepared synaptosomes (SYN) by serial ultracentrifugation of 10 AD (mean age = 77.
Introduction: In Down syndrome (DS), white matter hyperintensities (WMHs) are highly prevalent, yet their topography and association with sociodemographic data and Alzheimer's disease (AD) biomarkers remain largely unexplored.
Methods: In 261 DS adults and 131 euploid controls, fluid-attenuated inversion recovery magnetic resonance imaging scans were segmented and WMHs were extracted in concentric white matter layers and lobar regions. We tested associations with AD clinical stages, sociodemographic data, cerebrospinal fluid (CSF) AD biomarkers, and gray matter (GM) volume.
Article Synopsis
- This study investigates the occurrence and characteristics of cerebral microbleeds in adults with Down syndrome (DS), a population at risk for Alzheimer's disease (AD), to understand their relationship with clinical variables and cognitive outcomes.
- The research involves a cross-sectional analysis of 276 individuals with DS and 158 healthy controls, using neuroimaging, genetic testing, and cognitive assessments to evaluate microbleed prevalence and its associations with AD biomarkers.
- Results show that individuals with DS are more likely to have microbleeds compared to controls, with prevalence increasing with age and severity of AD, particularly in those carrying the ε4 allele, but not linked to common vascular risk factors.