Publications
Welcome to the publications page of the Framingham Heart Study Brain Aging Program (FHS-BAP), where we showcase the groundbreaking research driving advancements in Alzheimer’s Disease (AD) understanding. Our program is committed to revolutionizing AD research through a comprehensive approach that integrates surveillance, discovery, and collaboration. Here, you will find our latest publications, which reflect our work in enhancing cognitive decline assessments, brain imaging techniques, and the revitalization of our brain donation program. These publications highlight key findings in genetic factors, risk markers, and biomarkers related to AD, all aimed at fostering a global research community and accelerating the identification of therapeutic targets. Explore our research to learn more about our mission to uncover the biological foundations of AD and contribute to the preservation of cognitive health.
Blood-derived mitochondrial DNA copy number is associated with Alzheimer disease, Alzheimer-related biomarkers and serum metabolites
Abstract Background: Blood-derived mitochondrial DNA copy number (mtDNA-CN) is a proxy measurement of mitochondrial function in the peripheral and central systems. Abnormal mtDNA-CN not only indicates impaired mtDNA replication and transcription machinery but also dysregulated biological processes such as energy and lipid metabolism. However, the relationship between mtDNA-CN and Alzheimer disease (AD)... More
AI-based differential diagnosis of dementia etiologies on multimodal data
Abstract Differential diagnosis of dementia remains a challenge in neurology due to symptom overlap across etiologies, yet it is crucial for formulating early, personalized management strategies. Here, we present an artificial intelligence (AI) model that harnesses a broad array of data, including demographics, individual and family medical history, medication use, neuropsychological... More
Cognitive resilience to Alzheimer’s disease characterized by cell-type abundance
Abstract Introduction: The molecular basis of cognitive resilience (CR) among pathologically confirmed Alzheimer's disease (AD) cases is not well understood. Methods: Abundance of 13 cell types and neuronal subtypes in brain bulk RNA-seq data from the anterior caudate, dorsolateral prefrontal cortex (DLPFC), and posterior cingulate cortex (PCC) obtained from 434 AD cases, 318 cognitively... More
Whole-genome sequencing study in Koreans identifies novel loci for Alzheimer’s disease
Abstract Introduction: The genetic basis of Alzheimer's disease (AD) in Koreans is poorly understood. Methods: We performed an AD genome-wide association study using whole-genome sequence data from 3540 Koreans (1583 AD cases, 1957 controls) and single-nucleotide polymorphism array data from 2978 Japanese (1336 AD cases, 1642 controls). Significant findings were evaluated by pathway enrichment... More
The Relationship between Framingham Stroke Risk Profile on Incident Dementia and Alzheimer’s Disease: A 40-Year Follow-Up Study Highlighting Female Vulnerability
Abstract Objective:Sex differences in the association between cardiovascular risk factors and the incident all-cause dementia and the subtype Alzheimer's disease (AD) risk are unclear. Methods:Framingham Heart Study (FHS) participants (n = 4,171, 54% women, aged 55 to 69 years) were included at baseline and followed up to 40 years. The Framingham Stroke... More