DREAMER: a computational framework to evaluate readiness of datasets for machine learning
Abstract Background: Machine learning (ML) has emerged as the predominant computational paradigm for analyzing large-scale datasets across diverse domains. The assessment of dataset quality stands as a pivotal precursor to the successful deployment of ML models. In this study, we introduce DREAMER (Data REAdiness for MachinE learning Research), an algorithmic framework leveraging supervised and unsupervised machine […]
Asian Cohort for Alzheimer’s Disease (ACAD) pilot study on genetic and non-genetic risk factors for Alzheimer’s disease among Asian Americans and Canadian
Abstract Introduction: Clinical research in Alzheimer’s disease (AD) lacks cohort diversity despite being a global health crisis. The Asian Cohort for Alzheimer’s Disease (ACAD) was formed to address underrepresentation of Asians in research, and limited understanding of how genetics and non-genetic/lifestyle factors impact this multi-ethnic population. Methods: The ACAD started fully recruiting in October 2021 with one […]
Relative Contributions of Mixed Pathologies to Cognitive and Functional Symptoms in Brain Donors Exposed to Repetitive Head Impacts
Abstract Objective: Exposure to repetitive head impacts (RHI) is associated with later-life cognitive symptoms and neuropathologies, including chronic traumatic encephalopathy (CTE). Cognitive decline in community cohorts is often due to multiple pathologies; however, the frequency and contributions of these pathologies to cognitive impairment in people exposed to RHI are unknown. Here, we examined the relative contributions […]
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) is unclear. Methods: We performed […]
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 assessments, functional evaluations and […]
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 resilient AD cases, […]
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 and differential gene […]
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 Risk Profile (FSRP) […]
Comparison of Commonly Measured Plasma and Cerebrospinal Fluid Proteins and Their Significance for the Characterization of Cognitive Impairment Status
Abstract Background: Although cerebrospinal fluid (CSF) amyloid-β42 peptide (Aβ42) and phosphorylated tau (p-tau) and blood p-tau are valuable for differential diagnosis of Alzheimer’s disease (AD) from cognitively normal (CN) there is a lack of validated biomarkers for mild cognitive impairment (MCI). Objective: This study sought to determine how plasma and CSF protein markers compared in the characterization […]
“It Will Make CTE a Treatable Disease”: The Race for a Diagnosis in Life
When you’re not feeling yourself, you hope your doctor can provide some answers. Maybe they can tell you what’s wrong, why it’s happening, and what can be done about it. Or, if they can’t zero in on a diagnosis, perhaps tests—blood work, scans, samples—can help fill in the gaps. But what if a diagnosis never […]