Evidence map›Paper›PMID 39535517›Full record

ReviewAlzheimer's & dementia : the journal of the Alzheimer's Association2025

Blood biomarkers in Down syndrome: Facilitating Alzheimer's disease detection and monitoring.

Melissa E Petersen, Lisi Flores-Aguilar, Elizabeth Head, Laia Montoliu-Gaya, Andre Strydom, Sarah E Pape, Juan Fortea, Nicholas J Ashton, Chinedu Udeh-Momoh, Sid E O'Bryant and 4 more

Abstract readReview
In one paragraph

Review in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

16 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Blood-based biomarkers for Alzheimer's disease in Down syndrome: A systematic review and meta-analysis.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Precision medicine for Alzheimer's disease in Down syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Longitudinal investigation of gait and Alzheimer's disease in adults with Down syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  14. Article
  15. Blood biomarkers in Down syndrome: Facilitating Alzheimer's disease detection and monitoring.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Review
  16. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Melissa E PetersenDepartment of Family Medicine, University of North Texas Health Science Center, Fort Worth, Texas, USA.
Lisi Flores-AguilarDepartment of Pathology and Laboratory Medicine, University of California, Irvine, California, USA.
Elizabeth HeadDepartment of Pathology and Laboratory Medicine, University of California, Irvine, California, USA.
Laia Montoliu-GayaDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Goteborg, Sweden.
Andre StrydomDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College, London, UK.
Sarah E PapeDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College, London, UK.
Juan ForteaSant Pau Memory Unit, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Barcelona, Spain.
Nicholas J AshtonDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Goteborg, Sweden.
Chinedu Udeh-MomohDepartment of Epidemiology and Prevention, Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
Sid E O'BryantDepartment of Family Medicine, University of North Texas Health Science Center, Fort Worth, Texas, USA.
Dwight GermanDepartment of Psychiatry and O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Florin DespaDepartment of Pharmacology and Nutritional Sciences, University of Kentucky, Lexington, Kentucky, USA.
Mark MapstoneDepartment of Neurology, University of California, Irvine, California, USA.
Henrik ZetterbergDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Goteborg, Sweden.

Funding

The Health & Aging Brain Study - Health Disparities (HABS-HD)U19AG078109 · NIA · UNIVERSITY OF NORTH TEXAS HLTH SCI CTR · PI LEIGH A JOHNSON · 2022 to 2026
$181.1M
Project 3: Biomarkers for DS Clinical TrialsU19AG068054 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LEE, JOSEPH HYUNGWOO · 2020 to 2025
$103.7M
Health and Aging Brain among Latino Elders (HABLE-AT(N)) StudyR01AG058533 · NIA · UNIVERSITY OF NORTH TEXAS HLTH SCI CTR · PI JOHNSON, LEIGH A, O'BRYANT, SID E · 2020 to 2025
$45.4M
TR&D3: Intrinsic Surface MappingP41EB015922 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI TOGA, ARTHUR W · 2012 to 2022
$14.1M
Health Disparities in Alzheimer's Disease and Mild Cognitive Impairment among Mexican AmericansR01AG054073 · NIA · UNIVERSITY OF NORTH TEXAS HLTH SCI CTR · PI O'BRYANT, SID E, TOGA, ARTHUR W · 2017 to 2021
$12.6M
The Role of Inflammation and NGF Dysfunction in the Evolution of Alzheimer Disease Pathology in Down Syndrome-RevisionRF1AG056850 · NIA · UNIVERSITY OF CALIFORNIA-IRVINE · PI BUSCIGLIO, JORGE A, CUELLO, A CLAUDIO · 2018 to 2020
$5.9M
Clinical trials to prevent Alzheimer's Disease in Down SyndromeR61AG066543 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI RAFII, MICHAEL S · 2019 to 2020
$5.6M
Tau pathology in Down syndrome and Alzheimer'sRF1AG061566 · NIA · UNIVERSITY OF DENVER (COLORADO SEMINARY) · PI GRANHOLM-BENTLEY, ANN-CHARLOTTE ESTHER, MARGITTAI, MARTIN · 2019 to 2019
$3.4M
Cerebrovascular contributions to Alzheimer's disease in adults with Down SyndromeRF1AG079519 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BRICKMAN, ADAM M, HEAD, ELIZABETH · 2022 to 2022
$3.1M
Biological Correlates of Alzheimer in Down Syndrome.R21AG056974 · NIA · UNIVERSITY OF DENVER (COLORADO SEMINARY) · PI GRANHOLM-BENTLEY, ANN-CHARLOTTE ESTHER · 2017 to 2018
$414k
AD Strategic Fund and Alzheimer's Association ADSF-21-831376-CAD Strategic Fund and Alzheimer's Association ADSF-21-831377-CAD Strategic Fund and Alzheimer's Association ADSF-21-831381-CAlzheimer's Association 23AARFD-1022715Alzheimer's Drug Discovery Foundation 201809-2016862Alzheimer Society AS-CP-18-0020Alzheimer's Society AS-CP-18-0020Bluefield ProjectCentro de Investigación Biomédica en Red sobre Enfermedades NeurodegenerativasDepartament de Salut, Generalitat de Catalunya SLT006/17/00119Erling-Persson Family FoundationEuropean Commission 1R61AG066543-01European Commission GO-DS21-848077European Union Joint Programme-Neurodegenerative Disease Research JPND2021-00694Fondo de Investigaciones Sanitario, Carlos III Health Institute PI20/01473Foundation for the National Institutes of Health 1R01AG056850-01A1Foundation for the National Institutes of Health 1R61AG066543-01Foundation for the National Institutes of Health R01AG054073Foundation for the National Institutes of Health R01AG058533Foundation for the National Institutes of Health R01AG061566Foundation for the National Institutes of Health R21AG056974Foundation for the National Institutes of Health RF1AG079519Foundation for the National Institutes of Health U19AG068054Foundation for the National Institutes of Health U19AG078109Horizon 2020- Research and Innovation Framework Programme from the European Union H2020-SC1-BHC-2018-2020Horizon 2020- Research and Innovation Framework Programme from the European Union Marie Sklodowska-Curiegrant agreement No 860197 (MIRIADE)HORIZON EUROPE Framework Programme 101053962Jérôme Lejeune FoundationMedical Research Council MR/R024901/1Medical Research Council MR/ S005145/1Medical Research Council MR/S005145/1Medical Research Council MR/S011277/1National Institute for Health and Care Research University College London Hospitals Biomedical Research Centre, and the UK Dementia Research Institute at UCL UKDRI-1003NIA NIH HHS R01 AG054073NIA NIH HHS R01 AG058533NIA NIH HHS R21 AG056974NIA NIH HHS R61 AG066543NIA NIH HHS RF1 AG056850NIA NIH HHS RF1 AG061566NIA NIH HHS RF1 AG079519NIA NIH HHS U19 AG068054NIA NIH HHS U19 AG078109NIBIB NIH HHS P41 EB015922NIBIB NIH HHS P41EB015922Olav Thon FoundationStiftelsen for Gamla Tjanarinnor F02022-0270Swedish Research Council 2019-02397Swedish Research Council 2022-01018Swedish State Support for Clinical Research ALFGBG-71320
6 · The paper itself

Abstract

Blood-based biomarkers continue to be explored for disease detection, monitoring of progression, and therapeutic outcomes as the diagnostic determination of Alzheimer's Disease in Down Syndrome (DS-AD) remains challenging in clinical settings. This perspective highlights the current status of this effort. Overall, amyloid (A), tau (T), and neurodegeneration (AT[N]) blood-based biomarkers have been shown to increase with disease pathology for individuals with DS. Phosphorylated tau biomarkers (p-tau217, p-tau181) have been consistently shown to track disease progression for DS-AD and are likely good candidates for use in clinical settings. Biomarkers of inflammation (glial fibrillary acidic protein) also show promise; however, additional work is needed. Findings from stability work of blood-based biomarkers conducted among non-DS also support the potential longitudinal utility of biomarkers such as neurofilament light chain and p-tau181 in DS. Gaps in our knowledge are highlighted, and a potential role for sex differences in biomarker outcomes is noted, along with recommendations for determining the appropriate context of use when translating biomarkers into clinical applications. HIGHLIGHTS: An overview of blood-based biomarkers for Alzheimer's disease (AD) was provided for consideration of their utility among individuals with Down syndrome when looking toward potential clinical applications. Longitudinal stability of many blood biomarkers and improvement in detection sensitivity make blood such as plasma a viable source for exploring AD pathology. Variability in reviewed findings regarding the application of blood biomarkers highlights the importance of understanding and defining the appropriate context of use, particularly when translating them into clinical practice.

Indexed as

Alzheimer DiseaseBiomarkersDown SyndromeDisease ProgressionHumanstau ProteinsBiomarkerstau ProteinsAlzheimer's diseaseamyloidbiomarkersbloodDown syndromeneurodegenerationtau

Identifiers

PMID39535517
PMCPMC11782192

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.