Evidence map›Paper›PMID 40469048›Full record

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

The history of Down syndrome-associated Alzheimer's disease; past, present, and future.

Lucia Maure-Blesa, María Carmona-Iragui, Ira Lott, Elizabeth Head, Thomas Wisniewski, Michael S Rafii, Joaquín Espinosa, Jesús Flórez, William C Mobley, Anthony Holland and 3 more

Abstract readHistorical Article
In one paragraph

Article 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 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–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

8 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Development of Molecular Neuropathology in Down Syndrome across the Lifespan.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025
    Review
  6. Review
  7. Review
  8. The history of Down syndrome-associated Alzheimer's disease; past, present, and future.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    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

13 authors.

Lucia Maure-BlesaSant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Departamento de Medicina, Barcelona, Spain.ORCID 0000-0001-5643-7971
María Carmona-IraguiSant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Departamento de Medicina, Barcelona, Spain.
Ira LottInstitute for Memory Impairments and Neurological Disorders (MIND), University of California, Irvine, Irvine, California, USA.
Elizabeth HeadDepartment of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, California, USA.
Thomas WisniewskiCenter for Cognitive Neurology, Department of Neurology, New York University Grossman School of Medicine, New York, New York, USA.
Michael S RafiiAlzheimer's Therapeutic Research Institute, Keck School of Medicine, University of Southern California, San Diego, California, USA.
Joaquín EspinosaLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Jesús FlórezDepartment of Physiology and Pharmacology, University of Cantabria, Santander, Spain.
William C MobleyDepartment of Neurosciences, University of California San Diego, La Jolla, California, USA.
Anthony HollandCambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Cambridge, UK.
André StrydomDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College, London, London, UK.
Shahid ZamanCambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Cambridge, UK.
Juan ForteaSant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Departamento de Medicina, Barcelona, Spain.

Funding

Research Education ComponentP30AG066512 · NIA · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI Mary Sherman Mittelman · 2020 to 2026
$28.4M
Transgenic/Behavior CoreP01AG060882 · NIA · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI SHAO, YONGZHAO · 2020 to 2024
$12.0M
The role of immune deregulation and NGF dysmetabolism in the development of Alzheimer disease in individuals with Down syndromeR01AG087280 · NIA · UNIVERSITY OF CALIFORNIA-IRVINE · PI JORGE A BUSCIGLIO, A CLAUDIO CUELLO · 2024 to 2026
$3.2M
AC ImmuneAdamedAlzheonAptah BioBiogenBiohavenEisaiEisai (AHEAD Study)Eli LillyElli LilyEmbicEsteveEuropean Union CM23/00291Foundation for the National Institutes of Health and R01AG087280Foundation for the National Institutes of Health P01AG060882Foundation for the National Institutes of Health P30AG066512FujirebioGlobal Down Syndrome FoundationInstituto de Salud Carlos III CM23/00291IonisLaboratorios CarnotLife Molecular ImagingLundbeckNIA NIH HHS P01 AG060882NIA NIH HHS R01 AG087280NIH HHS P01AG060882NIH HHS P30AG066512NIH HHS R01AG087280PerhaPerha PharmaceuticalsPositrigoPrescient ImagingRoche
6 · The paper itself

Abstract

The landscape of Down syndrome-associated Alzheimer's disease (DSAD) research reflects decades of scientific endeavor and collaborative effort, charting a remarkable journey from initial observations to the elucidation of complex genetic and molecular mechanisms. This perspective article chronicles key milestones and breakthroughs, paying homage to the pioneering scientists and advancements that have shaped the field. A thorough review of historical and contemporary literature offers a comprehensive narrative, highlighting the evolution of knowledge surrounding DSAD, from early recognition to the characterization of clinical presentation and natural history. The unique challenges and ethical considerations associated with DSAD populations are also examined, underscoring the importance of tailoring research and clinical approaches. By reflecting on the field's trajectory, this work celebrates past achievements while emphasizing the critical need for sustained research efforts. As part of a special issue, this article provides a foundation for appreciating the challenges and opportunities that lie ahead in advancing DSAD understanding and care. HIGHLIGHTS: This article provides a comprehensive overview of Down syndrome-associated Alzheimer's disease (DSAD) history, from early descriptions to its recognition as a genetic form of AD. It reflects on historical challenges faced by individuals with intellectual disabilities in achieving inclusion in scientific research. This historical perspective highlights the critical contributions of individuals with DS in advancing understanding of AD natural history. It explores pivotal milestones and efforts that have driven progress in DSAD research. Finally, it provides context to understand challenges and opportunities in DSAD research and its future directions.

Indexed as

Alzheimer DiseaseDown SyndromeHistory, 20th CenturyHistory, 21st CenturyHumansAlzheimer's diseaseamyloidclinical trialsDown syndromeDown syndrome–associated Alzheimer's diseasehistorical perspective

Identifiers

PMID40469048
PMCPMC12138279

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.