Richard Mayeux
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View article: Author Correction: High inter-rater reliability in consensus diagnoses and overall assessment in the Asian Cohort for Alzheimer’s Disease Study
Author Correction: High inter-rater reliability in consensus diagnoses and overall assessment in the Asian Cohort for Alzheimer’s Disease Study Open
View article: Genetic regulation of the metabolome differs by sex, Alzheimer's disease stage, and plasma biomarker status
Genetic regulation of the metabolome differs by sex, Alzheimer's disease stage, and plasma biomarker status Open
INTRODUCTION We investigated genetic regulators of circulating plasma metabolites to identify pathways underlying biochemical changes in clinical and biomarker‐supported Alzheimer's disease (AD). METHODS We computed metabolite quantitative…
View article: Genome‐wide association studies of TDP‐43 proteinopathy and hippocampal sclerosis reveal shared genetic associations with APOE and TMEM106B
Genome‐wide association studies of TDP‐43 proteinopathy and hippocampal sclerosis reveal shared genetic associations with APOE and TMEM106B Open
INTRODUCTION Transactive response DNA binding protein 43 kDa (TDP‐43) proteinopathy has been linked to cognitive decline and often co‐occurs with hippocampal sclerosis (HS). To identify genetic markers of TDP‐43 proteinopathy and HS, we pe…
View article: CoxMDS: Multiple Data Splitting for High-dimensional Mediation Analysis with Survival Outcomes in Epigenome-wide Studies
CoxMDS: Multiple Data Splitting for High-dimensional Mediation Analysis with Survival Outcomes in Epigenome-wide Studies Open
Causal mediation analysis investigates whether the effect of an exposure on an outcome operates through intermediate variables known as mediators. Although progress has been made in high-dimensional mediation analysis, current methods do n…
View article: Novel differentially expressed genes and multiple biological pathways for Alzheimer's disease identified in brain tissue from African American donors
Novel differentially expressed genes and multiple biological pathways for Alzheimer's disease identified in brain tissue from African American donors Open
INTRODUCTION Few African American (AA) donors have been included in post mortem Alzheimer's disease (AD) studies compared to European‐ancestry (EA) individuals. METHODS We generated transcriptome‐wide bulk pre‐frontal cortex (PFC) gene exp…
View article: A multi-ancestry polygenic risk score for Alzheimer disease is associated with cognitive decline, hippocampal atrophy and neuropathological hallmarks in diverse populations
A multi-ancestry polygenic risk score for Alzheimer disease is associated with cognitive decline, hippocampal atrophy and neuropathological hallmarks in diverse populations Open
Alzheimer disease (AD) has a strong genetic basis, yet previously derived polygenic risk scores (PRS) are heavily weighted by the APOE locus and perform inconsistently across diverse ancestries. We developed an APOE -independent multi-ance…
View article: Genome‐wide pleiotropy analysis of longitudinal blood pressure and harmonized cognitive performance measures
Genome‐wide pleiotropy analysis of longitudinal blood pressure and harmonized cognitive performance measures Open
INTRODUCTION Identifying pleiotropy for blood pressure (BP) and cognitive performance measures may indicate mechanistic links between hypertension and Alzheimer's disease (AD). METHODS We performed a pleiotropy genome‐wide association stud…
View article: Frequency of Microvascular Pathology and Hippocampal Atrophy on <scp>Magnetic Resonance Imaging</scp> in a Community Study of Alzheimer's Disease with Blood‐Based Biomarkers
Frequency of Microvascular Pathology and Hippocampal Atrophy on <span>Magnetic Resonance Imaging</span> in a Community Study of Alzheimer's Disease with Blood‐Based Biomarkers Open
Objective Blood‐based biomarkers for Alzheimer's disease (AD), representing antemortem indicators of AD pathophysiology, have greatly improved the accuracy of diagnosis. However, these biomarkers may not capture a frequent coincident patho…
View article: High inter-rater reliability in consensus diagnoses and overall assessment in the Asian Cohort for Alzheimer’s Disease Study
High inter-rater reliability in consensus diagnoses and overall assessment in the Asian Cohort for Alzheimer’s Disease Study Open
View article: Polygenic Scores of Core-1 Alzheimer’s Disease Biomarkers Predict Early Cognitive and Pathological Change
Polygenic Scores of Core-1 Alzheimer’s Disease Biomarkers Predict Early Cognitive and Pathological Change Open
BACKGROUND Core-1 biomarkers, such as amyloid PET, capture the earliest biological changes leading to Alzheimer’s disease (AD). While APOE is a major genetic factor, the contribution of other variants to Core-1 biomarkers remains unclear. …
View article: Phase contrast-derived cerebral blood flow is associated with neurodegeneration and cerebrovascular injury in older adults
Phase contrast-derived cerebral blood flow is associated with neurodegeneration and cerebrovascular injury in older adults Open
Global cerebral blood flow and the local delivery of blood through the vascular network are essential to maintain brain and cognitive health throughout the lifespan. In this cross-sectional study, we examined the association of extracrania…
View article: Publisher Correction: GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia
Publisher Correction: GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia Open
View article: Author Correction: GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia
Author Correction: GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia Open
Correction to: Nature Genetics 10.1038/s41588-024-01939-9, published online 8 October 2024. After publication of the article, several collaborators helpfully pointed out issues with genetic variant ID harmonization and effect allele coding…
View article: Structural variation detection and association analysis of whole‐genome‐sequence data from 16,543 Alzheimer's disease sequencing project subjects
Structural variation detection and association analysis of whole‐genome‐sequence data from 16,543 Alzheimer's disease sequencing project subjects Open
INTRODUCTION The role of structural variations (SVs) in Alzheimer's disease (AD) remains understudied. METHODS We analyzed whole‐genome sequencing data from the Alzheimer's Disease Sequencing Project ( N = 16,543) and identified 400,234 (1…
View article: Sex-Specific Genetic Drivers of Memory, Executive Functioning, and Language Performance in Older Adults
Sex-Specific Genetic Drivers of Memory, Executive Functioning, and Language Performance in Older Adults Open
We previously identified sex-specific genetic loci associated with memory performance, a strong Alzheimer’s disease (AD) endophenotype. Here, we expand on this work by conducting sex-specific, cross-ancestral, genome-wide meta-analyses of …
View article: Biological Age and Age Acceleration Predict Alzheimer’s Disease Plasma Biomarker Levels
Biological Age and Age Acceleration Predict Alzheimer’s Disease Plasma Biomarker Levels Open
Epigenetic clocks can predict pathological aging associated with Alzheimer’s disease (AD) risk, albeit findings are mixed regarding if clocks are predictive in blood and in non-European populations. We constructed epigenetic clocks from bl…
View article: Single-nucleus multiomics in brains from Hispanic individuals reveal<i>APOE-ε4</i>-driven disruption of focal adhesion signaling in the presence of cerebrovascular pathology
Single-nucleus multiomics in brains from Hispanic individuals reveal<i>APOE-ε4</i>-driven disruption of focal adhesion signaling in the presence of cerebrovascular pathology Open
The apolipoprotein E ε4 allele ( APOE-ε4 ) is the strongest genetic risk factor for late-onset Alzheimer’s disease (AD), yet its molecular impact on cerebrovascular biology remains inconclusive, particularly in underrepresented populations…
View article: Alzheimer's Disease Sequencing Project release 4 whole genome sequencing dataset
Alzheimer's Disease Sequencing Project release 4 whole genome sequencing dataset Open
INTRODUCTION The Alzheimer's Disease Sequencing Project (ADSP) is a national initiative to understand the genetic architecture of Alzheimer's disease and related dementias (ADRD) by integrating whole genome sequencing (WGS) with other gene…
View article: <i>APOE</i> and Alzheimer's disease and related dementias risk among 12,221 Hispanics/Latinos
<i>APOE</i> and Alzheimer's disease and related dementias risk among 12,221 Hispanics/Latinos Open
BACKGROUND Effect of apolipoprotein E ( APOE ) on Alzheimer's disease and related dementias (ADRD) risk is heterogeneous across populations, with scarce data on Hispanics/Latinos. METHODS APOE genotype was studied in 12,221 Hispanics/Latin…
View article: Association of dietary fatty acids with longitudinal change in plasma-based biomarkers of Alzheimer's disease
Association of dietary fatty acids with longitudinal change in plasma-based biomarkers of Alzheimer's disease Open
View article: Genetic Regulation of the Metabolome Differs by Sex, Alzheimer’s Disease Stage, and Plasma Biomarker Status
Genetic Regulation of the Metabolome Differs by Sex, Alzheimer’s Disease Stage, and Plasma Biomarker Status Open
We investigated genetic regulators of circulating plasma metabolites to identify pathways underlying biochemical changes in clinical and biomarker-assisted diagnosis of Alzheimer’s disease (AD). We computed metabolite quantitative trait lo…
View article: Genome-wide pleiotropy analysis of longitudinal blood pressure and harmonized cognitive performance measures
Genome-wide pleiotropy analysis of longitudinal blood pressure and harmonized cognitive performance measures Open
Background Genome-wide association studies (GWAS) have identified over 1,000 blood pressure (BP) loci and over 80 loci for Alzheimer’s disease (AD). Considering BP is an AD risk factor, identifying pleiotropy in BP and cognitive performanc…
View article: <i>APOE-</i>ε4-induced Fibronectin at the blood-brain barrier is a conserved pathological mediator of disrupted astrocyte-endothelia interaction in Alzheimer’s disease
<i>APOE-</i>ε4-induced Fibronectin at the blood-brain barrier is a conserved pathological mediator of disrupted astrocyte-endothelia interaction in Alzheimer’s disease Open
Blood-brain barrier (BBB) dysfunction is a key feature of Alzheimer’s disease (AD), particularly in individuals carrying the APOE-ε4 allele. This dysfunction worsens neuroinflammation and hinders the removal of toxic proteins, such as amyl…
View article: Inflammatory biomarkers profiles and cognition among older adults
Inflammatory biomarkers profiles and cognition among older adults Open
View article: Evaluating the association of<i>APOE</i>genotype and cognitive resilience in SuperAgers
Evaluating the association of<i>APOE</i>genotype and cognitive resilience in SuperAgers Open
INTRODUCTION “SuperAgers” are oldest-old adults (ages 80+) whose memory performance more closely resembles middle-aged adults. The present study examined APOE allele frequency in non-Hispanic Black (NHB) and non-Hispanic White (NHW) SuperA…
View article: Rare <i>PANK2</i> variants and pantothenate-kinase-associated neurodegeneration in the Dominican Republic
Rare <i>PANK2</i> variants and pantothenate-kinase-associated neurodegeneration in the Dominican Republic Open
Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare, autosomal recessive neurological disorder characterized by the progressive degeneration of specific regions in the brain and is invariably fatal. Several individuals in fam…
View article: Early life exposure to structural sexism and late‐life memory trajectories among black and white women and men in the United States
Early life exposure to structural sexism and late‐life memory trajectories among black and white women and men in the United States Open
INTRODUCTION We investigated whether early life exposure to state‐level structural sexism influenced late‐life memory trajectories among United Staes (U.S.) ‐born women and men and determined whether associations differed between racialize…
View article: Alzheimer’s Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset
Alzheimer’s Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset Open
The Alzheimer’s Disease Sequencing Project (ADSP) is a national initiative to understand the genetic architecture of Alzheimer’s Disease and Related Dementias (AD/ADRD) by sequencing whole genomes of affected participants and age-matched c…
View article: Clinical Use of Lecanemab at an Academic Medical Center
Clinical Use of Lecanemab at an Academic Medical Center Open
For Alzheimer’s disease (AD), there are currently two FDA‐approved agents developed as disease‐modifying treatments. Approval of lecanemab (Leqembi®) in 2023, via accelerated approval mechanism, followed by traditional approval accompanied…
View article: Association of CSF Proteome with CSF P‐tau181 levels and other biomarkers of Alzheimer's Disease
Association of CSF Proteome with CSF P‐tau181 levels and other biomarkers of Alzheimer's Disease Open
Background We investigated the relationship between the cerebrospinal fluid (CSF) proteome in Alzheimer’s disease (AD) and the clinical and biomarker‐assisted diagnoses. Methods CSF was collected in 500 individuals of non‐Hispanic white, A…