TREM2 risk variants and associated endophenotypes in alzheimer's disease.

Background: Rare variants of the triggering receptor expressed on myeloid cell 2 (TREM2) gene are strong risk factors for Alzheimer's disease (AD), and drugs targeting the TREM2 protein are being developed. However, it is unknown what the effect of TREM2 variants is on the AD phenotype.

Methods: Here we studied a full range of clinical and biomarker measures in a large cohort of TREM2 variant carriers (n = 123, 7.

Enlarged cavum septum pellucidum as a neuroimaging signature of head impact exposure.

Cavum septum pellucidum (CSP) is commonly observed upon neuroimaging examination in individuals exposed to repetitive head impacts (RHI) and post-mortem in cases with chronic traumatic encephalopathy. Consequently, CSP has been proposed as a potential biomarker for RHI-related neurodegeneration, yet prevalence estimates of CSP across other neurodegenerative diseases and its clinical implications are largely unknown. We assessed CSP prevalence and clinical correlates in individuals with RHI exposure, a history of traumatic brain injury (TBI), a neurodegenerative disease (i.

Cerebral blood flow and cognitive functioning in patients undergoing transcatheter aortic valve implantation.

Background: Approximately one-third of patients with symptomatic severe aortic valve stenosis scheduled for transcatheter aortic valve implantation (TAVI) have some degree of cognitive impairment. The effect of TAVI on cardiac output, cerebral blood flow (CBF), and cognitive functioning has not been systematically studied.

Methods: CAPITA (NCT05481008) is a prospective longitudinal study assessing cerebral and cognitive outcomes in patients that underwent TAVI between August 2020 and October 2022.

Quantitative trait loci mapping of circulating metabolites in cerebrospinal fluid to uncover biological mechanisms involved in brain-related phenotypes.

Genomic studies of molecular traits have provided mechanistic insights into complex disease, though these lag behind for brain-related traits due to the inaccessibility of brain tissue. We leveraged cerebrospinal fluid (CSF) to study neurobiological mechanisms in vivo, measuring 5543 CSF metabolites, the largest panel in CSF to date, in 977 individuals of European ancestry. Individuals originated from two separate cohorts including cognitively healthy subjects (n = 490) and a well-characterized memory clinic sample, the Amsterdam Dementia Cohort (ADC, n = 487).

Feasibility and acceptability of remote APOE-genotyping among research volunteers of an online recruitment registry (The Dutch Brain Research Registry).

Background: Participant recruitment for preclinical Alzheimer's disease (AD) prevention studies is challenging. Online registries facilitate large scale prescreening of individuals at risk for AD to accelerate recruitment. APOE-prescreening has the potential to better identify at-risk individuals.