The Alzheimer’s Disease Neuroimaging Initiative (ADNI)
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The Alzheimer’s Disease Neuroimaging Initiative (ADNI)

The Alzheimer’s Disease Neuroimaging Initiative (ADNI) dataset is a longitudinal, multi-center observational research resource focused on validating biomarkers for Alzheimer’s disease clinical trials. It contains aggregate-level clinical data collected over time from more than 2,500 participants across the United States and Canada, along with linked study cohort information, subject characteristics, clinical assessments and questionnaires, PET and MRI imaging data, MRI quality control and preprocessing outputs, numerical imaging datasets, scanner protocols, biofluid biomarkers, genetics and related omics, neuropathology, remotely collected ADNI4 data, and biospecimen information. Its primary application is supporting Alzheimer’s disease and related dementia research by enabling broad data sharing and biomarker discovery.

adni.loni.usc.edu
IP: 68.181.124.24
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相关论文

88

Non-coding variability at the APOE locus contributes to the Alzheimer’s risk

Xiaopu ZhouYu ChenKin Y. MokTimothy C. Y. KwokVincent C. T. Mok15
Nature Communications
2019
2019/7/25
Vol.10 No.1 p.1-16
Alzheimer’s disease (AD) is a leading cause of mortality in the elderly. While the coding change of APOE-ε4 is a key risk factor for late-onset AD and has been believed to be the only risk factor in the APOE locus, it does not fully explain the risk effect conferred by the locus. Here, we report the...
Alzheimer's diseaseDiseases of the nervous systemGenetic association studyGenetics of the nervous system
10.1038/S41467-019-10945-Z
ISSN:2041-1723

Associations between sleep quality, plasma neurofilament light, and cognition in older adults without dementia

Hai-Hua GuoDong-Xin LiangQun ZhangYan FuLiang-Yu Huang8
Translational Psychiatry
2025
2025/5/16
Vol.15 No.1 p.1-10
The relationship between sleep quality, neurofilament light chain (NFL), and cognitive impairment, including the potential effect of plasma NFL in this association, remains unclear. Using the Alzheimer’s Disease Neuroimaging Initiative (ADNI) cohort, we excluded individuals with dementia or a histor...
Human behaviourLearning and memory
10.1038/S41398-025-03389-1
ISSN:2158-3188

Shared vulnerability for connectome alterations across psychiatric and neurological brain disorders

Siemon C. de LangeLianne H. Scholtens
Nature Human Behaviour
2019
2019/8/5
Vol.3 No.9 p.988-998
Macroscale white matter pathways are the infrastructure for large-scale communication in the human brain and a prerequisite for healthy brain function. Disruptions in the brain’s connectivity architecture play an important role in many psychiatric and neurological brain disorders. Here we show that ...
Diseases of the nervous systemNeurological disordersPsychiatric disorders
10.1038/S41562-019-0659-6
ISSN:2397-3374

Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer’s disease-associated genes: DTNB and DLG2

Prokopenko DmitryLee SanghunHecker JulianMullin KristinaMorgan Sarah13
Molecular Psychiatry
2022
2022/3/4
00 p.1-7
Alzheimer’s disease (AD) is a genetically complex disease for which nearly 40 loci have now been identified via genome-wide association studies (GWAS). We attempted to identify groups of rare variants (alternate allele frequency <0.01) associated with AD in a region-based, whole-genome sequencing...
GeneticsNeuroscience
10.1038/S41380-022-01475-0
ISSN:1359-4184

Magnitude and kinetics of a set of neuroanatomic volume and thickness together with white matter hyperintensity is definitive of cognitive status and brain age

Neha YadavNiraj Kumar GuptaDarshit ThakarVivek Tiwari
Translational Psychiatry
2024
2024/9/27
Vol.14 No.1 p.1-13
Even among the subjects classified as cognitively normal, there exists a subset of individuals at a given chronological age (CA) who harbor white matter hyperintensity (WMH) while another subset presents with low or undetectable WMH. Here, we conducted a comprehensive MRI segmentation of neuroanatom...
Molecular neurosciencePredictive markers
10.1038/S41398-024-03097-2
ISSN:2158-3188

DunedinPACNI estimates the longitudinal Pace of Aging from a single brain image to track health and disease

Ethan T. WhitmanMaxwell L. ElliottAnnchen R. KnodtWickliffe C. AbrahamTim J. Anderson16
Nature Aging
2025
2025/7/1
00 p.1-18
To understand how aging affects functional decline and increases disease risk, it is necessary to develop measures of how fast a person is aging. Using data from the Dunedin Study, we introduce an accurate and reliable measure for the rate of longitudinal aging derived from cross-sectional brain mag...
Neural ageingPredictive markers
10.1038/S43587-025-00897-Z
ISSN:2662-8465

Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer’s disease

Daniel WesternJigyasha TimsinaLihua WangCiyang WangChengran Yang40
Nature Genetics
2024
2024/11/11
00 p.1-13
The integration of quantitative trait loci (QTLs) with disease genome-wide association studies (GWASs) has proven successful in prioritizing candidate genes at disease-associated loci. QTL mapping has been focused on multi-tissue expression QTLs or plasma protein QTLs (pQTLs). We generated a cerebro...
Genome-wide association studiesGenomics
10.1038/S41588-024-01972-8
ISSN:1061-4036

Hemispheric asymmetry of tau pathology is related to asymmetric amyloid deposition in Alzheimer’s Disease

Toomas Erik AnijärvRik OssenkoppeleRuben SmithAlexa Pichet BinetteLyduine E. Collij17
Nature Communications
2025
2025/9/5
Vol.16 No.1 p.1-15
The distribution of tau pathology in Alzheimer’s disease (AD) shows remarkable inter-individual heterogeneity, including hemispheric asymmetry. However, the factors driving this asymmetry remain poorly understood. Here we explore whether tau asymmetry is linked to i) reduced inter-hemispheric brain ...
Alzheimer's diseaseDiagnostic markers
10.1038/S41467-025-63564-2
ISSN:2041-1723

CYP1B1-RMDN2 Alzheimer’s disease endophenotype locus identified for cerebral tau PET

Kwangsik NhoShannon L. RisacherLiana G. ApostolovaPaula J. BiceJared R. Brosch59
Nature Communications
2024
2024/9/20
Vol.15 No.1 p.1-14
Determining the genetic architecture of Alzheimer’s disease pathologies can enhance mechanistic understanding and inform precision medicine strategies. Here, we perform a genome-wide association study of cortical tau quantified by positron emission tomography in 3046 participants from 12 independent...
Alzheimer's diseaseGenome-wide association studies
10.1038/S41467-024-52298-2
ISSN:2041-1723

Four distinct trajectories of tau deposition identified in Alzheimer’s disease

Jacob W. VogelAlexandra L. YoungNeil P. OxtobyRuben SmithRik Ossenkoppele17
Nature Medicine
2021
2021/4/29
Vol.27 No.5 p.871-881
Alzheimer’s disease (AD) is characterized by the spread of tau pathology throughout the cerebral cortex. This spreading pattern was thought to be fairly consistent across individuals, although recent work has demonstrated substantial variability in the population with AD. Using tau-positron emission...
Alzheimer's diseaseNeurodegenerative diseasesPrognostic markers
10.1038/S41591-021-01309-6
ISSN:1078-8956

Multiplex cerebrospinal fluid proteomics identifies biomarkers for diagnosis and prediction of Alzheimer’s disease

Yu GuoShi-Dong ChenJia YouShu-Yi HuangYi-Lin Chen15
Nature Human Behaviour
2024
2024/7/10
00 p.1-20
Recent expansion of proteomic coverage opens unparalleled avenues to unveil new biomarkers of Alzheimer’s disease (AD). Among 6,361 cerebrospinal fluid (CSF) proteins analysed from the ADNI database, YWHAG performed best in diagnosing both biologically (AUC = 0.969) and clinically (AUC = 0.857) defi...
Alzheimer's diseaseDiagnostic markersNeurodegeneration
10.1038/S41562-024-01924-6
ISSN:2397-3374

A cerebrospinal fluid synaptic protein biomarker for prediction of cognitive resilience versus decline in Alzheimer’s disease

Hamilton Se-Hwee OhDeniz Yagmur UreyLinda KarlssonZeyu ZhuYuanyuan Shen38
Nature Medicine
2025
2025/3/31
00 p.1-12
Rates of cognitive decline in Alzheimer’s disease (AD) are extremely heterogeneous. Although biomarkers for amyloid-beta (Aβ) and tau proteins, the hallmark AD pathologies, have improved pathology-based diagnosis, they explain only 20–40% of the variance in AD-related cognitive impairment (CI). To d...
Alzheimer's diseaseCognitive ageingPrognostic markersProteome informatics
10.1038/S41591-025-03565-2
ISSN:1078-8956

Forecasting individual progression trajectories in Alzheimer’s disease

Maheux EtienneKoval IgorOrtholand JulietteBirkenbihl ColinArchetti Damiano10
Nature Communications
2023
2023/2/10
Vol.14 No.1 p.1-15
The anticipation of progression of Alzheimer’s disease (AD) is crucial for evaluations of secondary prevention measures thought to modify the disease trajectory. However, it is difficult to forecast the natural progression of AD, notably because several functions decline at different ages and differ...
Alzheimer's diseasePrognostic markersClinical trial design
10.1038/S41467-022-35712-5
ISSN:2041-1723

Distinct spatiotemporal subtypes of amyloid deposition are associated with diverging disease profiles in cognitively normal and mild cognitive impairment individuals

Sun YuqingZhao YuxinHu KeWang MengLiu Yong6
Translational Psychiatry
2023
2023/2/2
Vol.13 No.1 p.1-9
We aimed to investigate the relationship between spatiotemporal changes of amyloid deposition and Alzheimer’s disease (AD) profiles in cognitively normal (CN) and those with mild cognitive impairment (MCI). Using a data-driven method and amyloid-PET data, we identified and validated two subtypes in ...
NeurosciencePredictive markers
10.1038/S41398-023-02328-2
ISSN:2158-3188

APOE genotype-specific methylation patterns are linked to Alzheimer disease pathology and estrogen response

Rebecca PanitchNathan SahelijoJunming HuKwangsik NhoDavid A. Bennett10
Translational Psychiatry
2024
2024/2/29
Vol.14 No.1 p.1-10
The joint effects of APOE genotype and DNA methylation on Alzheimer disease (AD) risk is relatively unknown. We conducted genome-wide methylation analyses using 2,021 samples in blood (91 AD cases, 329 mild cognitive impairment, 1,391 controls) and 697 samples in brain (417 AD cases, 280 controls). ...
DiseasesGenetics
10.1038/S41398-024-02834-X
ISSN:2158-3188

A high-generalizability machine learning framework for predicting the progression of Alzheimer’s disease using limited data

Wang CaihuaLi YuanzhongTsuboshita YukihiroSakurai TakuyaGoto Tsubasa9
Npj Digital Medicine
2022
2022/4/12
Vol.5 No.1 p.1-10
Alzheimer’s disease is a neurodegenerative disease that imposes a substantial financial burden on society. A number of machine learning studies have been conducted to predict the speed of its progression, which varies widely among different individuals, for recruiting fast progressors in future clin...
Alzheimer's diseaseRisk factors
10.1038/S41746-022-00577-X
ISSN:2398-6352

Diagnostic performance and prediction of clinical progression of plasma phospho-tau181 in the Alzheimer’s Disease Neuroimaging Initiative

Thomas K. KarikariAndréa L. BenedetNicholas J. AshtonJuan Lantero RodriguezAnniina Snellman19
Molecular Psychiatry
2020
2020/10/26
Vol.26 No.2 p.429-442
Whilst cerebrospinal fluid (CSF) and positron emission tomography (PET) biomarkers for amyloid-β (Aβ) and tau pathologies are accurate for the diagnosis of Alzheimer’s disease (AD), their broad implementation in clinical and trial settings are restricted by high cost and limited accessibility. Plasm...
Diagnostic markersPrognostic markers
10.1038/S41380-020-00923-Z
ISSN:1359-4184

A multimodal deep learning approach for the prediction of cognitive decline and its effectiveness in clinical trials for Alzheimer’s disease

Caihua WangHisateru TachimoriHiroyuki YamaguchiAtsushi SekiguchiYuanzhong Li6
Translational Psychiatry
2024
2024/2/21
Vol.14 No.1 p.1-11
Alzheimer’s disease is one of the most important health-care challenges in the world. For decades, numerous efforts have been made to develop therapeutics for Alzheimer’s disease, but most clinical trials have failed to show significant treatment effects on slowing or halting cognitive decline. Amon...
NeurosciencePredictive markers
10.1038/S41398-024-02819-W
ISSN:2158-3188

Deep learning models identify brain changes during the progression of Alzheimer’s disease

Jinhui SunJing-Dong J. HanWeiyang Chen
Npj Systems Biology And Applications
2026
2026/2/19
Vol.12 No.1 p.420
Alzheimer’s disease (AD) is an irreversible neurodegenerative disorder whose progression is closely associated with time. However, most diagnostic models are based on single time-point data, overlooking longitudinal disease characteristics. Structural magnetic resonance imaging (sMRI) has been widel...
Computational biology and bioinformaticsDiseasesNeurologyNeuroscience
10.1038/S41540-026-00666-7
ISSN:2056-7189

Blood phospho-tau in Alzheimer disease: analysis, interpretation, and clinical utility

Karikari Thomas K.Ashton Nicholas J.Brinkmalm GunnarBrum Wagner S.Benedet Andréa L.12
Nature Reviews Neurology
2022
2022/5/18
00 p.1-19
Well-authenticated biomarkers can provide critical insights into the biological basis of Alzheimer disease (AD) to enable timely and accurate diagnosis, estimate future burden and support therapeutic trials. Current cerebrospinal fluid and molecular neuroimaging biomarkers fulfil these criteria but ...
Alzheimer's diseaseBiomarkers
10.1038/S41582-022-00665-2
ISSN:1759-4758

Exploiting macro- and micro-structural brain changes for improved Parkinson’s disease classification from MRI data

Milton CamachoMatthias WilmsHannes AlmgrenKimberly AmadorRichard Camicioli8
Npj Parkinson's Disease
2024
2024/2/26
Vol.10 No.1 p.1-12
Parkinson’s disease (PD) is the second most common neurodegenerative disease. Accurate PD diagnosis is crucial for effective treatment and prognosis but can be challenging, especially at early disease stages. This study aimed to develop and evaluate an explainable deep learning model for PD classifi...
BrainDiagnostic markersParkinson's disease
10.1038/S41531-024-00647-9
ISSN:2373-8057

CHRNA5 links chandelier cells to severity of amyloid pathology in aging and Alzheimer’s disease

Jonas RybnicekYuxiao ChenMilos MilicEarvin S. TioJoAnne McLaurin13
Translational Psychiatry
2024
2024/2/8
Vol.14 No.1 p.1-13
Changes in high-affinity nicotinic acetylcholine receptors are intricately connected to neuropathology in Alzheimer’s Disease (AD). Protective and cognitive-enhancing roles for the nicotinic α5 subunit have been identified, but this gene has not been closely examined in the context of human aging an...
Clinical geneticsMolecular neuroscience
10.1038/S41398-024-02785-3
ISSN:2158-3188

Multi-organ AI endophenotypes chart the heterogeneity of brain, eye and heart pan-disease

Aleix Boquet-PujadasFilippos AnagnostakisZhijian YangYe Ella TianMichael R. Duggan14
Nature Mental Health
2026
2026/1/6
Vol.4 No.2 p.203-230
Disease heterogeneity and commonality pose critical challenges to precision medicine, as traditional approaches frequently focus on single disease entities and overlook shared mechanisms across conditions. Here, inspired by pan-cancer and multi-organ research, we introduce the concept of ‘pan-diseas...
Computational modelsGenetics research
10.1038/S44220-025-00560-X
ISSN:2731-6076

Metabolism fluctuation coupling can track the progression of dementia and describe MST1 gene-related pathology

Jinhua ShengZe YangYang WangQiao ZhangYu Xin7
Communications Medicine
2026
2026/1/12
Vol.6 No.1 p.240
Cognitive resilience refers to an individual’s capacity to cope with brain aging and pathology and to delay cognitive decline, whereas existing techniques such as functional magnetic resonance imaging capture only macroscopic features without linking them to neurophysiological mechanisms. Recent stu...
Alzheimer's diseaseCognitive control
10.1038/S43856-025-01172-3
ISSN:2730-664X

Proteome wide association studies of LRRK2 variants identify novel causal and druggable proteins for Parkinson’s disease

Bridget PhillipsDaniel WesternLihua WangJigyasha TimsinaYichen Sun26
Npj Parkinson's Disease
2023
2023/7/8
Vol.9 No.1 p.1-9
Common and rare variants in the LRRK2 locus are associated with Parkinson’s disease (PD) risk, but the downstream effects of these variants on protein levels remain unknown. We performed comprehensive proteogenomic analyses using the largest aptamer-based CSF proteomics study to date (7006 aptamers ...
BiomarkersGenomics
10.1038/S41531-023-00555-4
ISSN:2373-8057

Spatiotemporal dynamics of the human cortical functional hierarchy across the lifespan

Qiongling LiXinyuan LiangDebin ZengTengda ZhaoXuhong Liao74
Nature Communications
2026
2026/4/7
0
The human cortical functional hierarchy, spanning from primary sensorimotor to transmodal association regions, represents a fundamental principle of brain organisation. Here, we show lifespan changes in the sensorimotor-association (S-A) gradient in the cortical functional hierarchy using multimodal...
Cognitive neuroscienceFunctional magnetic resonance imaging
10.1038/S41467-026-71270-W
ISSN:2041-1723

Deep learning-based polygenic risk analysis for Alzheimer’s disease prediction

Zhou XiaopuChen YuIp Fanny C. F.Jiang YuanbingCao Han23
Communications Medicine
2023
2023/4/6
Vol.3 No.1 p.1-20
The polygenic nature of Alzheimer’s disease (AD) suggests that multiple variants jointly contribute to disease susceptibility. As an individual’s genetic variants are constant throughout life, evaluating the combined effects of multiple disease-associated genetic risks enables reliable AD risk predi...
Alzheimer's diseaseMedical genomics
10.1038/S43856-023-00269-X
ISSN:2730-664X

APOE4 homozygozity represents a distinct genetic form of Alzheimer’s disease

Juan ForteaJordi PeguerolesDaniel AlcoleaOlivia BelbinOriol Dols-Icardo14
Nature Medicine
2024
2024/5/6
00 p.1-8
This study aimed to evaluate the impact of APOE4 homozygosity on Alzheimer’s disease (AD) by examining its clinical, pathological and biomarker changes to see whether APOE4 homozygotes constitute a distinct, genetically determined form of AD. Data from the National Alzheimer’s Coordinating Center an...
Alzheimer's diseaseDementiaPredictive markers
10.1038/S41591-024-02931-W
ISSN:1078-8956

Proteomic signatures of the APOE ε4 and APOE ε2 genetic variants and Alzheimer’s disease

Lina LuAlexa Pichet BinetteInes HristovskaShorena JanelidzeBart Smets17
Nature Aging
2026
2026/5/15
00 p.1-20
The APOE locus is the strongest genetic factor for Alzheimer’s disease, with ε4 increasing and ε2 decreasing risk, yet the basis of these opposing effects remains unclear. Here we performed a multicohort proteomic analysis across plasma and cerebrospinal fluid in GNPC, BioFINDER-2, ADNI, UK BioBank,...
AgeingAlzheimer's diseaseBiomarkersCognitive ageingGenetic association study
10.1038/S43587-026-01123-0
ISSN:2662-8465

Causality-driven candidate identification for reliable DNA methylation biomarker discovery

Xinlu TangRui GuoZhanfeng MoWenli FuXiaohua Qian
Nature Communications
2025
2025/1/15
Vol.16 No.1 p.1-15
Despite vast data support in DNA methylation (DNAm) biomarker discovery to facilitate health-care research, this field faces huge resource barriers due to preliminary unreliable candidates and the consequent compensations using expensive experiments. The underlying challenges lie in the confounding ...
Biomedical engineeringData miningMachine learning
10.1038/S41467-025-56054-Y
ISSN:2041-1723

Lewy body pathology exacerbates brain hypometabolism and cognitive decline in Alzheimer’s disease

Lyduine E. CollijSophie E. MastenbroekNiklas Mattsson-CarlgrenOlof StrandbergRuben Smith9
Nature Communications
2024
2024/9/14
Vol.15 No.1 p.1-9
Identifying concomitant Lewy body (LB) pathology through seed amplification assays (SAA) might enhance the diagnostic and prognostic work-up of Alzheimer’s disease (AD) in clinical practice and trials. This study examined whether LB pathology exacerbates AD-related disease progression in 795 cogniti...
NeurodegenerationPrognostic markers
10.1038/S41467-024-52299-1
ISSN:2041-1723

Study design features increase replicability in brain-wide association studies

Kaidi KangJakob SeidlitzRichard A. I. BethlehemJiangmei XiongMegan T. Jones19
Nature
2024
2024/11/27
00 p.1-9
Brain-wide association studies (BWAS) are a fundamental tool in discovering brain–behaviour associations1,2. Several recent studies have shown that thousands of study participants are required for good replicability of BWAS1–3. Here we performed analyses and meta-analyses of a robust effect size ind...
NeurologyNeuroscience
10.1038/S41586-024-08260-9
ISSN:0028-0836

Mapping heterogeneous brain structural subtypes in alzheimer’s disease and mild cognitive impairment using normative models

Xiaotong WeiTingting ZhangRonglong XiongQiuzhu ZhangJunjun Zhang7
Translational Psychiatry
2026
2026/3/2
Vol.16 No.1 p.1680
Alzheimer’s disease (AD) is a heterogeneous disorder with individual variability in clinical and biological features. Mild cognitive impairment (MCI) represents transition phase and provides a critical window for early intervention. Clinically applicable metrics for quantifying individual brain stru...
DiseasesNeuroscience
10.1038/S41398-026-03902-0
ISSN:2158-3188

Revealing excitation-inhibition imbalance in Alzheimer’s disease using multiscale neural model inversion of resting-state functional MRI

Guoshi LiLi-Ming HsuYe WuAndrea C. BozokiYen-Yu Ian Shih6
Communications Medicine
2025
2025/1/15
Vol.5 No.1 p.1-21
Alzheimer’s disease (AD) is a serious neurodegenerative disorder without a clear understanding of pathophysiology. Recent experimental data have suggested neuronal excitation-inhibition (E-I) imbalance as an essential element of AD pathology, but E-I imbalance has not been systematically mapped out ...
Alzheimer's diseaseNetwork models
10.1038/S43856-025-00736-7
ISSN:2730-664X

Mapping effective connectivity by virtually perturbing a surrogate brain

Zixiang LuoKaining PengZhichao LiangShengyuan CaiChenyu Xu9
Nature Methods
2025
2025/4/22
00 p.1-10
Effective connectivity (EC), which reflects the causal interactions between brain regions, is fundamental to understanding information processing in the brain; however, traditional methods for obtaining EC, which rely on neural responses to stimulation, are often invasive or limited in spatial cover...
Computational neuroscienceMachine learning
10.1038/S41592-025-02654-X
ISSN:1548-7091

From performance to practice: knowledge-distilled segmentator for on-premises clinical workflows

Qizhen LanAaron ChoiJun MaBo WangZhongming Zhao7
Npj Health Systems
2026
2026/7/3
Vol.3 No.1 p.580
Deploying medical image segmentation models in routine clinical workflows is often constrained by on-premises infrastructure, where computational resources are fixed and cloud-based inference may be restricted by governance and security policies. While high-capacity models achieve strong segmentatio...
Computational biology and bioinformaticsEngineeringHealth careMathematics and computing
10.1038/S44401-026-00108-W
ISSN:3005-1959

White matter micro- and macrostructure brain charts for the human lifespan

Michael E. KimChenyu GaoKarthik RamadassNancy R. NewlinPraitayini Kanakaraj30
Nature
2026
2026/5/13
00 p.1-11
The human brain relies on a complex network of connections to function, with white matter acting as the primary communication highway between different brain regions1,2. Disruptions in these critical communication pathways are linked to several neurological, psychiatric and developmental disorders3,...
Brain imagingData processing
10.1038/S41586-026-10454-2
ISSN:0028-0836

Genetic variants associated with longitudinal changes in brain structure across the lifespan

Brouwer Rachel M.Klein MariekeGrasby Katrina L.Schnack Hugo G.Jahanshad Neda200
Nature Neuroscience
2022
2022/4/5
00 p.1-12
Human brain structure changes throughout the lifespan. Altered brain growth or rates of decline are implicated in a vast range of psychiatric, developmental and neurodegenerative diseases. In this study, we identified common genetic variants that affect rates of brain growth or atrophy in what is, t...
Genetics of the nervous systemGenome-wide association studies
10.1038/S41593-022-01042-4
ISSN:1097-6256

An IL1RL1 genetic variant lowers soluble ST2 levels and the risk effects of APOE-ε4 in female patients with Alzheimer’s disease

Jiang YuanbingZhou XiaopuWong Hiu YiOuyang LiIp Fanny C. F.29
Nature Aging
2022
2022/7/15
Vol.2 No.7 p.616-634
Changes in the levels of circulating proteins are associated with Alzheimer’s disease (AD), whereas their pathogenic roles in AD are unclear. Here, we identified soluble ST2 (sST2), a decoy receptor of interleukin-33–ST2 signaling, as a new disease-causing factor in AD. Increased circulating sST2 le...
AgeingAlzheimer's diseaseGenetics of the nervous systemNeuroimmunology
10.1038/S43587-022-00241-9
ISSN:2662-8465

Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer’s disease CSF profile of neuronal injury and inflammation

Neumann AlexanderKüçükali FahriBos IsabelleVos Stephanie J. B.Engelborghs Sebastiaan35
Molecular Psychiatry
2022
2022/2/16
00 p.1-10
Alzheimer’s disease (AD) biomarkers represent several neurodegenerative processes, such as synaptic dysfunction, neuronal inflammation and injury, as well as amyloid pathology. We performed an exome-wide rare variant analysis of six AD biomarkers (β-amyloid, total/phosphorylated tau, NfL, YKL-40, an...
Diagnostic markersGenetics
10.1038/S41380-022-01437-6
ISSN:1359-4184

Brain aging patterns in a large and diverse cohort of 49,482 individuals

Zhijian YangJunhao WenGuray ErusSindhuja T. GovindarajanRanda Melhem53
Nature Medicine
2024
2024/8/15
00 p.1-12
Brain aging process is influenced by various lifestyle, environmental and genetic factors, as well as by age-related and often coexisting pathologies. Magnetic resonance imaging and artificial intelligence methods have been instrumental in understanding neuroanatomical changes that occur during agin...
Brain imagingEngineeringNeurological disordersPrognostic markers
10.1038/S41591-024-03144-X
ISSN:1078-8956

The BIN1 rs744373 SNP is associated with increased tau-PET levels and impaired memory

Nicolai FranzmeierAnna RubinskiJulia NeitzelMichael Ewers
Nature Communications
2019
2019/4/16
Vol.10 No.1 p.1-12
The single nucleotide polymorphism (SNP) rs744373 in the bridging integrator-1 gene (BIN1) is a risk factor for Alzheimer’s disease (AD). In the brain, BIN1 is involved in endocytosis and sustaining cytoskeleton integrity. Post-mortem and in vitro studies suggest that BIN1-associated AD risk is medi...
Alzheimer's diseaseDisease genetics
10.1038/S41467-019-09564-5
ISSN:2041-1723

Staging tau pathology with tau PET in Alzheimer’s disease: a longitudinal study

Chen Shi-DongLu Jia-YingLi Hong-QiYang Yu-XiangJiang Jie-Hui10
Translational Psychiatry
2021
2021/9/18
Vol.11 No.1 p.1-12
A biological research framework to define Alzheimer’ disease with dichotomized biomarker measurement was proposed by National Institute on Aging–Alzheimer’s Association (NIA–AA). However, it cannot characterize the hierarchy spreading pattern of tau pathology. To reflect in vivo tau progression usin...
BiomarkersNeuroscience
10.1038/S41398-021-01602-5
ISSN:2158-3188

Dissection of the polygenic architecture of neuronal Aβ production using a large sample of individual iPSC lines derived from Alzheimer’s disease patients

Kondo TakayukiHara NorikazuKoyama SatoshiYada YuichiroTsukita Kayoko12
Nature Aging
2022
2022/2/17
Vol.2 No.2 p.125-139
Genome-wide association studies have demonstrated that polygenic risks shape Alzheimer’s disease (AD). To elucidate the polygenic architecture of AD phenotypes at a cellular level, we established induced pluripotent stem cells from 102 patients with AD, differentiated them into cortical neurons and ...
AgeingAlzheimer's diseaseBioinformaticsGenome-wide association studiesNeurological models
10.1038/S43587-021-00158-9
ISSN:2662-8465

Heterogeneous aging across multiple organ systems and prediction of chronic disease and mortality

Tian Ye EllaCropley VanessaMaier Andrea B.Lautenschlager Nicola T.Breakspear Michael6
Nature Medicine
2023
2023/4/6
00 p.1-11
Biological aging of human organ systems reflects the interplay of age, chronic disease, lifestyle and genetic risk. Using longitudinal brain imaging and physiological phenotypes from the UK Biobank, we establish normative models of biological age for three brain and seven body systems. Here we find ...
DiseasesNeural ageingPredictive markersTranslational research
10.1038/S41591-023-02296-6
ISSN:1078-8956

Divergent white matter metabolic signature patterns indicate impending cognitive decline in aging and dementia

Wen ZhangSheelakumari RaghavanJianqiao TianScott A. PrzybelskiHeather J. Wiste15
Nature Communications
2026
2026/3/19
0
White matter (WM) is a key substrate for interregional neural communication and cognitive function but the role of WM glucose metabolism in cognitive aging has been understudied. Using multimodal neuroimaging (MRI, FDG-PET, amyloid-PET) from 3142 participants (15,287 visits) across two studies, we e...
DementiaPredictive markersWhite matter disease
10.1038/S41467-026-70707-6
ISSN:2041-1723

Predicting categorical and continuous Alzheimer’s disease outcomes from a single MRI scan

Daren MaChristabelle PabalanAbhejit RajagopalAkanksha AkankshaYannet Interian7
Nature Aging
2026
2026/5/18
Vol.6 No.5 p.1121-1137
Deep learning (DL) has shown success in predicting Alzheimer’s disease (AD) diagnosis, yet continuous measures such as cognitive assessment remain critical for richer prognosis, trajectory tracking and clinical trial enrichment. Current neurocognitive batteries are time-consuming, and the few DL mod...
Alzheimer's diseaseCognitive ageing
10.1038/S43587-026-01121-2
ISSN:2662-8465

A lightweight CVTC model for accurate Alzheimer’s MRI analysis and lesion annotation

Yiwei LuHongcheng YuTianbao LiYuting MengJianbo Lu6
Npj Digital Medicine
2026
2026/1/8
Vol.9 No.1 p.380
In clinical practice, MRI images are widely used to diagnose neurodegenerative diseases like Alzheimer’s disease (AD). However, complex MRI patterns often mimic normal aging, relying on subjective experience and risking misdiagnosis. This paper proposes the Cross Vision Transformer with Coordinate (...
Alzheimer's disease
10.1038/S41746-025-02212-X
ISSN:2398-6352

Proteomic changes in Alzheimer’s disease associated with progressive Aβ plaque and tau tangle pathologies

Alexa Pichet BinetteChris GaiteriMalin WennströmAtul KumarInes Hristovska16
Nature Neuroscience
2024
2024/8/26
00 p.1-12
Proteomics can shed light on the dynamic and multifaceted alterations in neurodegenerative disorders like Alzheimer’s disease (AD). Combining radioligands measuring β-amyloid (Aβ) plaques and tau tangles with cerebrospinal fluid proteomics, we uncover molecular events mirroring different stages of A...
Alzheimer's disease
10.1038/S41593-024-01737-W
ISSN:1097-6256

Astrocyte-related proteins mediate the association of YWHAG with Alzheimer’s pathology and enhance its diagnostic value

Zihao ZhangPengcheng HuangYirong YangHailun WuXuerui Yao15
Translational Psychiatry
2026
2026/4/9
0
Recent advances have identified YWHAG as a promising synaptic biomarker, with evidence showing that the YWHAG:NPTX2 ratio strongly predicts cognitive decline and Alzheimer’s disease (AD) progression independent of amyloid and tau pathology. However, the links between YWHAG and astrocytic processes-k...
Diagnostic markersLearning and memory
10.1038/S41398-026-04020-7
ISSN:2158-3188

Human lifespan changes in the brain’s functional connectome

Lianglong SunTengda ZhaoXinyuan LiangMingrui XiaQiongling Li69
Nature Neuroscience
2025
2025/4/3
Vol.28 No.4 p.891-901
Functional connectivity of the human brain changes through life. Here, we assemble task-free functional and structural magnetic resonance imaging data from 33,250 individuals at 32 weeks of postmenstrual age to 80 years from 132 global sites. We report critical inflection points in the nonlinear gro...
Cognitive neuroscienceFunctional magnetic resonance imaging
10.1038/S41593-025-01907-4
ISSN:1097-6256

Individual-specific functional connectivity improves prediction of Alzheimer’s disease’s symptoms in elderly people regardless of APOE ε4 genotype

Lin HuaFei GaoXiaoluan XiaQiwei GuoYonghua Zhao7
Communications Biology
2023
2023/5/31
Vol.6 No.1 p.1-11
To date, reliable biomarkers remain unclear that could link functional connectivity to patients’ symptoms for detecting and predicting the process from normal aging to Alzheimer’s disease (AD) in elderly people with specific genotypes. To address this, individual-specific functional connectivity is ...
Alzheimer's diseasePredictive markers
10.1038/S42003-023-04952-6
ISSN:2399-3642

Similarity-driven multi-view embeddings from high-dimensional biomedical data

Brian B. AvantsNicholas J. TustisonJames R. Stone
Nature Computational Science
2021
2021/2/22
Vol.1 No.2 p.143-152
Diverse, high-dimensional modalities collected in large cohorts present new opportunities for the formulation and testing of integrative scientific hypotheses. Similarity-driven multi-view linear reconstruction (SiMLR) is an algorithm that exploits inter-modality relationships to transform large sci...
Computational biology and bioinformaticsComputational science
10.1038/S43588-021-00029-8
ISSN:2662-8457

Genetic risk for attention-deficit/hyperactivity disorder predicts cognitive decline and development of Alzheimer’s disease pathophysiology in cognitively unimpaired older adults

Leffa Douglas T.Ferrari-Souza João PedroBellaver BrunaTissot CécileFerreira Pamela C. L.22
Molecular Psychiatry
2022
2022/12/8
Vol.28 No.3 p.1248-1255
Attention-deficit/hyperactivity disorder (ADHD) persists in older age and is postulated as a risk factor for cognitive impairment and Alzheimer’s Disease (AD). However, these findings rely primarily on electronic health records and can present biased estimates of disease prevalence. An obstacle to i...
ADHDPrognostic markers
10.1038/S41380-022-01867-2
ISSN:1359-4184

The impact of blood MCP-1 levels on Alzheimer’s disease with genetic variation at the NAV3 and UNC5C loci

Jinghan HuangYixuan WangThor D. SteinTing Fang Alvin AngYibo Zhu12
Translational Psychiatry
2025
2025/8/19
Vol.15 No.1 p.1-11
Monocyte chemoattractant protein-1 (MCP-1), a cytokine involved in peripheral inflammation, has been shown to modulate established Alzheimer’s disease (AD) loci. In this study, we hypothesized that blood MCP-1 levels may impact the associations of other genetic variants with AD risk beyond the well-...
BiomarkersDiseasesPersonalized medicine
10.1038/S41398-025-03542-W
ISSN:2158-3188

Identifying individuals with high risk of Alzheimer’s disease using polygenic risk scores

Ganna LeonenkoEmily BakerJoshua Stevenson-HoareAnnerieke SierksmaMark Fiers8
Nature Communications
2021
2021/7/23
Vol.12 No.1 p.1-10
Polygenic Risk Scores (PRS) for AD offer unique possibilities for reliable identification of individuals at high and low risk of AD. However, there is little agreement in the field as to what approach should be used for genetic risk score calculations, how to model the effect of APOE, what the optim...
Alzheimer's diseaseGeneticsGenome-wide association studiesNeurology
10.1038/S41467-021-24082-Z
ISSN:2041-1723

Association of choroid plexus volume with white matter microstructure, glymphatic function, and peripheral systemic inflammation in Alzheimer’s disease

Huwei XiaYijia FengHan ZhuDanlu YangChaoqun Wang11
Translational Psychiatry
2025
2025/7/11
Vol.15 No.1 p.1-9
There has been growing attention to the role of choroid plexus (CP) in neurodegenerative diseases. However, its relationship with various pathophysiological changes in Alzheimer’s Disease (AD) remains unclear. The purpose of this study is to investigate the relationship between CP volume (CPV) and w...
DiseasesPredictive markers
10.1038/S41398-025-03432-1
ISSN:2158-3188

Sex differences in plasma p-tau181 associations with Alzheimer’s disease biomarkers, cognitive decline, and clinical progression

Tsiknia Amaryllis A.Edland Steven D.Sundermann Erin E.Reas Emilie T.Brewer James B.7
Molecular Psychiatry
2022
2022/6/29
Vol.27 No.10 p.4314-4322
Studies have shown that women on the Alzheimer’s disease (AD) continuum have more pathological tau in the brain and cerebrospinal fluid (CSF), than men. Some studies have found that higher levels of tau biomarkers are more strongly associated with clinical AD, cognitive decline and neurodegeneration...
NeurosciencePredictive markers
10.1038/S41380-022-01675-8
ISSN:1359-4184

β-amyloid and tau drive early Alzheimer’s disease decline while glucose hypometabolism drives late decline

Tyler C. HammondXin XingChris WangDavid MaKwangsik Nho13
Communications Biology
2020
2020/7/6
Vol.3 No.1 p.1-13
Clinical trials focusing on therapeutic candidates that modify β-amyloid (Aβ) have repeatedly failed to treat Alzheimer’s disease (AD), suggesting that Aβ may not be the optimal target for treating AD. The evaluation of Aβ, tau, and neurodegenerative (A/T/N) biomarkers has been proposed for classify...
Learning algorithmsPredictive markers
10.1038/S42003-020-1079-X
ISSN:2399-3642

Polygenic resilience scores capture protective genetic effects for Alzheimer’s disease

Hou JiahuiHess Jonathan L.Armstrong NicolaBis Joshua C.Grenier-Boley Benjamin34
Translational Psychiatry
2022
2022/7/25
Vol.12 No.1 p.1-11
Polygenic risk scores (PRSs) can boost risk prediction in late-onset Alzheimer’s disease (LOAD) beyond apolipoprotein E (APOE) but have not been leveraged to identify genetic resilience factors. Here, we sought to identify resilience-conferring common genetic variants in (1) unaffected individuals h...
Clinical geneticsComparative genomicsLong-term memory
10.1038/S41398-022-02055-0
ISSN:2158-3188

BrainParc: unified lifespan brain parcellation from structural magnetic resonance images

Jiameng LiuFeihong LiuKaicong SunZhiming CuiTianyang Sun16
Nature Computational Science
2026
2026/3/11
00 p.1-15
Accurate brain parcellation from structural MRI across the human lifespan is essential for advancing neuroimaging and neuroscience studies. However, existing methods often struggle to generalize owing to intensity and contrast variations across brain maturation, aging and differences in MRI acquisit...
Brain imagingComputational neuroscienceMagnetic resonance imaging
10.1038/S43588-026-00963-5
ISSN:2662-8457

Lower functional hippocampal redundancy in mild cognitive impairment

Stephanie LangellaMuhammad Usman SadiqPeter J. MuchaKelly S. GiovanelloEran Dayan
Translational Psychiatry
2021
2021/1/18
Vol.11 No.1 p.1-12
With an increasing prevalence of mild cognitive impairment (MCI) and Alzheimer’s disease (AD) in response to an aging population, it is critical to identify and understand neuroprotective mechanisms against cognitive decline. One potential mechanism is redundancy: the existence of duplicate elements...
DiseasesNeuroscience
10.1038/S41398-020-01166-W
ISSN:2158-3188

Latent space-based network analysis for brain–behavior linking in neuroimaging

Selena WangXinzhi ZhangYunhe LiuWanwan XuXinyuan Tian6
Nature Methods
2025
2025/12/4
00 p.1-11
We propose a latent space-based statistical network analysis (LatentSNA) method that implements network science in a generative Bayesian framework, preserves neurologically meaningful brain topology and improves statistical power for imaging biomarker detection. LatentSNA (1) addresses the lack of p...
Network topologyStatistical methods
10.1038/S41592-025-02896-9
ISSN:1548-7091

Variable and interactive effects of Sex, APOE ε4 and TREM2 on the deposition of tau in entorhinal and neocortical regions

Joseph GiorgioCaroline JonsonYilin WangJennifer S. YokoyamaJingshen Wang6
Nature Communications
2025
2025/7/1
Vol.16 No.1 p.1-12
The canonical Alzheimer’s Disease (AD) pathological cascade posits that the accumulation of amyloid beta (Aβ) is the initiating event, accelerating the accumulation of tau in the entorhinal cortex (EC), which subsequently spreads into the neocortex. Here in a multi-cohort study (ADNI, A4, HABS-HD) o...
Alzheimer's disease
10.1038/S41467-025-60370-8
ISSN:2041-1723

Aβ-induced vulnerability propagates via the brain’s default mode network

Tharick A. PascoalSulantha MathotaarachchiMin Su KangSara MohaddesMonica Shin17
Nature Communications
2019
2019/6/4
Vol.10 No.1 p.1-13
The link between brain amyloid-β (Aβ), metabolism, and dementia symptoms remains a pressing question in Alzheimer’s disease. Here, using positron emission tomography ([18F]florbetapir tracer for Aβ and [18F]FDG tracer for glucose metabolism) with a novel analytical framework, we found that Aβ aggreg...
Alzheimer's diseaseDementiaNeurosciencePositron-emission tomography
10.1038/S41467-019-10217-W
ISSN:2041-1723

In vivo-measured Lewy body pathology is associated with neuropsychiatric symptoms across the Alzheimer’s disease continuum

Douglas Teixeira LeffaGuilherme PovalaPamela C. L. FerreiraJoão Pedro Ferrari-SouzaGuilherme Bauer-Negrini18
Molecular Psychiatry
2025
2025/12/14
00 p.1-9
Intracellular alpha-synuclein aggregates, known as Lewy bodies (LB), are commonly observed in Alzheimer’s disease (AD) dementia. Post-mortem studies have shown a higher frequency of neuropsychiatric symptoms among individuals with AD and LB co-pathology. However, the effects of in vivo-measured LB p...
DiseasesPredictive markers
10.1038/S41380-025-03400-7
ISSN:1359-4184

Longitudinal plasma phosphorylated tau 181 tracks disease progression in Alzheimer’s disease

Shi-Dong ChenYu-Yuan HuangXue-Ning ShenYu GuoLan Tan7
Translational Psychiatry
2021
2021/6/12
Vol.11 No.1 p.1-10
To assess plasma phosphorylated tau181 (p-tau181) as a progression biomarker in Alzheimer’s disease (AD), we examined longitudinal plasma p-tau181 of 1184 participants (403 cognitively normal (CN), 560 patients with mild cognitive impairment (MCI), and 221 with AD dementia) from Alzheimer’s Disease ...
BiomarkersNeuroscience
10.1038/S41398-021-01476-7
ISSN:2158-3188

Fingerprints of brain disease: connectome identifiability in Alzheimer’s disease

Sara StampacchiaSaina AsadiSzymon TomczykFederica RibaldiMax Scheffler15
Communications Biology
2024
2024/9/18
Vol.7 No.1 p.1-16
Functional connectivity patterns in the human brain, like the friction ridges of a fingerprint, can uniquely identify individuals. Does this “brain fingerprint” remain distinct even during Alzheimer’s disease (AD)? Using fMRI data from healthy and pathologically ageing subjects, we find that individ...
Alzheimer's diseaseNetwork models
10.1038/S42003-024-06829-8
ISSN:2399-3642

Genetic architectures of cerebral ventricles and their overlap with neuropsychiatric traits

Yi-Jun GeBang-Sheng WuYi ZhangShi-Dong ChenYa-Ru Zhang43
Nature Human Behaviour
2023
2023/10/19
00 p.1-17
The cerebral ventricles are recognized as windows into brain development and disease, yet their genetic architectures, underlying neural mechanisms and utility in maintaining brain health remain elusive. Here we aggregated genetic and neuroimaging data from 61,974 participants (age range, 9 to 98 ye...
Alzheimer's diseaseGenetics of the nervous systemGenetics researchGenome-wide association studies
10.1038/S41562-023-01722-6
ISSN:2397-3374

Automated Alzheimer’s disease detection using active learning model with reinforcement learning and scope loss function

Zhisen HeVijay GovindarajanJing YangMahmoud Abdel-SalamZaffar Ahmed Shaikh9
Npj Mental Health Research
2025
2025/10/8
Vol.4 No.1 p.1-18
Alzheimer’s disease (AD) is a chronic, incurable brain disorder, and early detection is essential for effective management. Traditional detection methods often rely on large, pre-labeled image datasets, which are costly and difficult to compile. To address this, we propose an innovative active learn...
AnatomyMathematics and computingNeurologyNeuroscience
10.1038/S44184-025-00158-2
ISSN:2731-4251

White matter dysfunction in Alzheimer’s disease is associated with disease-related transcriptomic signatures

Yilu LiGuanyu ZhouJinzhong PengLin LiuFanyu Zhang9
Communications Biology
2025
2025/5/28
Vol.8 No.1 p.1-14
While anatomical white matter (WM) alterations in Alzheimer’s disease (AD) are well-established, functional WM dysregulation remains rarely investigated. The current study examines WM functional connectivity and network properties alterations in AD and mild cognitive impairment (MCI) and further des...
Alzheimer's diseaseDiagnostic markers
10.1038/S42003-025-08177-7
ISSN:2399-3642

Cerebrospinal fluid proteomic signatures in cognitively normal individuals identify distinct clusters linked to neurodegeneration

Dahun SeoAnh N. DoGyujin HeoJiseon KwonSoomin Song23
Nature Aging
2025
2025/10/14
Vol.5 No.10 p.2125-2141
Age and APOE ε4 are major risk factors for Alzheimer’s disease (AD), while sex differences exist in disease prevalence and progression. Cerebrospinal fluid (CSF) proteomics can provide additional insights into brain aging and AD. To examine proteomic changes due to age, sex and apolipoprotein E (APO...
Cognitive ageingNeurodegeneration
10.1038/S43587-025-00971-6
ISSN:2662-8465

Age, sex and APOE-ε4 modify the balance between soluble and fibrillar β-amyloid in non-demented individuals: topographical patterns across two independent cohorts

Cacciaglia RaffaeleSalvadó GemmaMolinuevo José LuisShekari MahnazFalcon Carles15
Molecular Psychiatry
2022
2022/3/2
00 p.1-9
Amyloid (Aβ) pathology is the earliest detectable pathophysiological event along the Alzheimer’s continuum, which can be measured both in the cerebrospinal fluid (CSF) and by Positron Emission Tomography (PET). Yet, these biomarkers identify two distinct Aβ pools, reflecting the clearance of soluble...
BiomarkersGeneticsNeuroscience
10.1038/S41380-022-01436-7
ISSN:1359-4184

Resting-state global brain activity affects early β-amyloid accumulation in default mode network

Feng HanXufu LiuRichard B. MailmanXuemei HuangXiao Liu
Nature Communications
2023
2023/11/27
Vol.14 No.1 p.1-13
It remains unclear why β-amyloid (Aβ) plaque, a hallmark pathology of Alzheimer’s disease (AD), first accumulates cortically in the default mode network (DMN), years before AD diagnosis. Resting-state low-frequency ( < 0.1 Hz) global brain activity recently was linked to AD, presumably due to its...
Alzheimer's diseaseNeural circuits
10.1038/S41467-023-43627-Y
ISSN:2041-1723

Reevaluating the role of education on cognitive decline and brain aging in longitudinal cohorts across 33 Western countries

Anders M. FjellOle RogebergØystein SørensenInge K. AmlienDavid Bartrés-Faz23
Nature Medicine
2025
2025/7/28
00 p.1-10
Why education is linked to higher cognitive function in aging is fiercely debated. Leading theories propose that education reduces brain decline in aging and enhances tolerance to brain pathology or that it does not affect cognitive decline but, rather, reflects higher early-life cognitive function....
Alzheimer's diseasePsychology
10.1038/S41591-025-03828-Y
ISSN:1078-8956

Spread of pathological tau proteins through communicating neurons in human Alzheimer's disease

Jacob W. VogelYasser Iturria-MedinaOlof T. StrandbergRuben SmithElizabeth Levitis7
Nature Communications
2020
2020/5/26
Vol.11 No.1 p.1-15
Tau is a hallmark pathology of Alzheimer’s disease, and animal models have suggested that tau spreads from cell to cell through neuronal connections, facilitated by β-amyloid (Aβ). We test this hypothesis in humans using an epidemic spreading model (ESM) to simulate tau spread, and compare these sim...
Alzheimer's diseaseNetwork models
10.1038/S41467-020-15701-2
ISSN:2041-1723

Identifying healthy individuals with Alzheimer’s disease neuroimaging phenotypes in the UK Biobank

Tiago AzevedoRichard A. I. BethlehemDavid J. WhitesideNol SwaddiwudhipongJames B. Rowe7
Communications Medicine
2023
2023/7/20
Vol.3 No.1 p.1-15
Identifying prediagnostic neurodegenerative disease is a critical issue in neurodegenerative disease research, and Alzheimer’s disease (AD) in particular, to identify populations suitable for preventive and early disease-modifying trials. Evidence from genetic and other studies suggests the neurodeg...
BiomarkersNeuroscience
10.1038/S43856-023-00313-W
ISSN:2730-664X

Functional network collapse in neurodegenerative disease

Jesse A. BrownAlex J. LeeKristen FernhoffTaylor PistoneLorenzo Pasquini17
Nature Communications
2025
2025/11/21
Vol.16 No.1 p.102730
Cognitive and behavioral deficits in Alzheimer’s disease (AD) and frontotemporal dementia (FTD) arise alongside gray matter atrophy and altered functional connectivity, yet the structure-function relationship across the dementia spectrum remains unclear. Here we combine structural and functional MRI...
Dynamical systemsNeurodegeneration
10.1038/S41467-025-65156-6
ISSN:2041-1723

Data-driven causal model discovery and personalized prediction in Alzheimer's disease

Zheng HaoyangPetrella Jeffrey R.Doraiswamy P. MuraliLin GuangHao Wenrui
Npj Digital Medicine
2022
2022/9/8
Vol.5 No.1 p.1-12
With the explosive growth of biomarker data in Alzheimer’s disease (AD) clinical trials, numerous mathematical models have been developed to characterize disease-relevant biomarker trajectories over time. While some of these models are purely empiric, others are causal, built upon various hypotheses...
Computational modelsData processing
10.1038/S41746-022-00632-7
ISSN:2398-6352

Dissociation of tau pathology and neuronal hypometabolism within the ATN framework of Alzheimer’s disease

Duong Michael TranDas Sandhitsu R.Lyu XueyingXie LongRichardson Hayley9
Nature Communications
2022
2022/3/21
Vol.13 No.1 p.1-15
Alzheimer’s disease (AD) is defined by amyloid (A) and tau (T) pathologies, with T better correlated to neurodegeneration (N). However, T and N have complex regional relationships in part related to non-AD factors that influence N. With machine learning, we assessed heterogeneity in 18F-flortaucipir...
Alzheimer's diseaseNeurodegenerationPrognostic markers
10.1038/S41467-022-28941-1
ISSN:2041-1723

Predicting onset of symptomatic Alzheimerʼs disease with plasma p-tau217 clocks

Kellen K. PetersenMarta Milà-AlomàYan LiLianlian DuChengjie Xiong30
Nature Medicine
2026
2026/2/19
Vol.32 No.3 p.1085-1094
Predicting not just if, but also when, cognitively unimpaired individuals are likely to develop onset of Alzheimerʼs disease (AD) symptoms would be useful to clinical trials and, eventually, clinical practice. Although clock models based on amyloid and tau positron emission tomography have shown pro...
Alzheimer's disease
10.1038/S41591-026-04206-Y
ISSN:1078-8956

A generalizable foundation model for analysis of human brain MRI

Divyanshu TakBiniam A. GaromsaAnna ZapaishchykovaTafadzwa L. ChaunzwaJuan Carlos Climent Pardo25
Nature Neuroscience
2026
2026/2/5
Vol.29 No.4 p.945-956
Artificial intelligence applied to brain magnetic resonance imaging (MRI) holds potential to advance diagnosis, prognosis and treatment planning for neurological diseases. The field has been constrained, thus far, by limited training data and task-specific models that do not generalize well across p...
CNS cancerDiagnostic markers
10.1038/S41593-026-02202-6
ISSN:1097-6256

Plasma neurofilament light reflects more severe manifestation of Alzheimer’s disease in men

Xiaoqin ChengZhenghong WangKun HeYingfeng XiaYing Wang8
Molecular Psychiatry
2025
2025/8/12
00 p.1-10
Plasma neurofilament light (NfL) protein is a promising non-invasive biomarker for detecting neuronal damage in Alzheimer’s disease (AD). However, its clinical utility is limited by the lack of standardized threshold values. Sex is an important factor that should be considered when setting these thr...
NeurosciencePrognostic markers
10.1038/S41380-025-03149-Z
ISSN:1359-4184

Cross-tissue analysis of blood and brain epigenome-wide association studies in Alzheimer’s disease

C. Silva TiagoYoung Juan I.Zhang LanyuGomez LissetteSchmidt Michael A.9
Nature Communications
2022
2022/8/18
Vol.13 No.1 p.1-16
To better understand DNA methylation in Alzheimer’s disease (AD) from both mechanistic and biomarker perspectives, we performed an epigenome-wide meta-analysis of blood DNA methylation in two large independent blood-based studies in AD, the ADNI and AIBL studies, and identified 5 CpGs, mapped to the...
Alzheimer's diseaseDementiaDiagnostic markersDNA methylation
10.1038/S41467-022-32475-X
ISSN:2041-1723

Biomarker-integrated prognostic stagings for Alzheimer’s Disease

Daeun ShinSungjoo LeeJun Pyo KimHyemin JangJihwan Yun23
Nature Communications
2026
2026/2/2
Vol.17 No.1 p.22350
Accurately predicting disease progression remains a major challenge in Alzheimer’s disease (AD). Here we show that a biomarker-integrated prognostic staging system can stratify progression risk across the disease course by jointly incorporating cognitive status, established risk factors, plasma biom...
Alzheimer's diseasePrognostic markers
10.1038/S41467-026-68732-6
ISSN:2041-1723

Brain age gap as a predictive biomarker that links aging, lifestyle, and neuropsychiatric health

Ruixia ZhangFan YiHongjing MaoZhengxing HuangKai Wang6
Communications Medicine
2025
2025/10/24
Vol.5 No.1 p.1-14
The brain age gap (BAG) is a neuroimaging-derived marker of accelerated brain aging. However, its clinical application faces challenges due to model inaccuracies and unclear links to disease mechanisms. This study investigates the clinical relevance of BAG across neuropsychiatric disorders, cognitiv...
Cognitive neuroscienceNeuroscience
10.1038/S43856-025-01100-5
ISSN:2730-664X

Common and rare variant analyses implicate JARID2 in cerebral tau deposition

Tamil Iniyan GunasekaranDevendra MeenaAnnie J. LeeSiwei WuLogan Dumitrescu12
Npj Dementia
2026
2026/7/3
Vol.2 No.1 p.520
Genetic research on Alzheimer’s disease (AD) has primarily focused on amyloid-β (Aβ), with fewer studies exploring tau pathology. We performed common variant GWAS on tau-PET SUVRs from A4 (n = 311 preclinical AD) and ADNI (n = 375 across diagnostic groups) cohorts. We complemented this with locus-sp...
DiseasesGeneticsNeurologyNeuroscience
10.1038/S44400-026-00107-6
ISSN:3005-1940

A longitudinal DNA methylation atlas and its link to brain structure and mental health

Di ChenXinyang YuWei ChengLinbo WangShitong Xiang34
Molecular Psychiatry
2026
2026/3/31
00 p.1-15
Epigenetic mechanisms are thought to contribute to neurodevelopmental vulnerability for psychiatric disorders, yet longitudinal evidence linking DNA methylation (DNAm) to brain maturation and psychopathology is limited. Using epigenome-wide DNAm (372,582 CpGs) and whole-brain structural MRI data fro...
GeneticsPsychiatric disorders
10.1038/S41380-026-03554-Y
ISSN:1359-4184