Down syndrome and Alzheimer's: research in the library

• 664studies on this subject, of 27,380 in the library
• 640peer-reviewed
• 1975–2026years published
• 39median usefulness score out of 100

These counts and lists are worked out from the library itself each time the page loads. A score rates how much weight a study can bear — its design, journal, evidence and recency — not whether its result is good news. How we score a study.

1. Prevalence of epilepsy among people with intellectual disabilities: A systematic review Seizure · 2015-03-30 · usefulness score 74/100 · Peer-reviewed
2. The Alzheimer's Biomarker Consortium-Down Syndrome: Rationale and methodology Alzheimer's & dementia (Amsterdam, Netherlands) · 2020-08-03 · usefulness score 69/100 · Peer-reviewed
   • Down Syndrome
   • Biomarkers
   • Brain Scans
3. The Down Alzheimer Barcelona Neuroimaging Initiative (DABNI) and its contributions to understanding Alzheimer's disease in Down syndrome: A decade of discovery Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025-06-01 · usefulness score 67/100 · Peer-reviewed
   • Down Syndrome

   This 10-year cohort of 1135 participants found that progression to symptomatic Alzheimer's disease before age 40 was rare in Down syndrome but rates increased after age 50, with a predictable sequence of biomarker changes. It is an observational cohort that supports clinical trials but does not itself provide a treatment or cure.

4. Phosphorylated tau 217 in young adults with Down syndrome and Down syndrome regression disorder Communications medicine · 2026-09-21 · usefulness score 67/100 · Peer-reviewed
   • Down Syndrome
   • Biomarkers
5. Longitudinal Clinical and Cognitive Changes Along the Alzheimer Disease Continuum in Down Syndrome JAMA network open · 2022-08-01 · usefulness score 66/100 · Peer-reviewed
   • Down Syndrome

   In 632 adults with Down syndrome followed over time, the study tracked clinical and cognitive decline along the Alzheimer disease continuum. The authors say the results support screening from the fourth decade and can inform future prevention trials, but no treatment is tested.

6. Alzheimer Dementia Among Individuals With Down Syndrome JAMA network open · 2024-09-03 · usefulness score 66/100 · Peer-reviewed
   • Down Syndrome

   In a cohort of 132,720 adults with Down syndrome from 2011 to 2019, 47,692 had ever had an Alzheimer dementia diagnosis, and mean age at onset and age at death differed across racial and ethnic groups. This is a descriptive study of diagnosis and age patterns and does not test any treatment, cure or prevention.

7. Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review Neurology · 2024-05-17 · usefulness score 64/100 · Peer-reviewed
   • Genetics

   This review found reports of dementia in 49 adults across 14 rare genetic neurodevelopmental disorders, with a mean age at onset of 44.4 years. It shows how little is known about dementia in these conditions, since diagnostic methods were undisclosed for about half of the reported individuals.

8. The striatum is an early, accurate indicator of amyloid burden using [11C]PiB in Down syndrome: comparison of two radiotracers Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024-12-06 · usefulness score 63/100 · Peer-reviewed
   • Down Syndrome

   Using longitudinal PET data, this study found that the striatum shows early amyloid accumulation with PiB, and PiB showed greater striatal-to-cortical binding than florbetapir. It is an imaging biomarker study and reports no treatment, cure, or prevention.

9. Prevalence of Aging, Dementia, and Multimorbidity in Older Adults With Down Syndrome JAMA neurology · 2018-11-01 · usefulness score 61/100 · Peer-reviewed
   • Down Syndrome

   In one year (2015) of California Medicare claims, 353 of 878 adults aged 45+ with Down syndrome (40%) had a dementia diagnosis, rising to 49% among those 65 or older. Those with dementia averaged more other health conditions (3.4 vs 2.5), and four treatable ones (hypothyroidism, epilepsy, anemia and weight loss) were much more frequent in them. The authors conclude that adults with Down syndrome need "complex adult and geriatric care". The study only counts diagnoses at one point in time; it does not show what causes what or test any treatment.

10. Dementia in Down syndrome: unique insights for Alzheimer disease research Nature reviews. Neurology · 2019-03-01 · usefulness score 60/100 · Peer-reviewed
    • Down Syndrome

    This review states that "virtually all adults with Down syndrome" show the brain changes of Alzheimer's disease by age 40, partly because the APP gene, which makes the amyloid precursor protein, sits on chromosome 21 and is overexpressed. The authors argue that this predictable timing lets researchers study how Alzheimer's develops over a lifetime, and that comparing the risk, biomarker and genetic profiles of adults with Down syndrome with those of people who have Alzheimer's in the general population can show which disease pathways are shared and which differ. It summarises earlier research rather than reporting new data, and the age of 40 refers to brain changes, not to when dementia symptoms begin; it does not report a treatment.

11. The striatum is an early, accurate indicator of amyloid burden using [11C]PiB in Down syndrome: Comparison of two radiotracers Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025-04-01 · usefulness score 60/100 · Peer-reviewed
    • Down Syndrome
    • Brain Scans

    This longitudinal imaging study found that in adults with Down syndrome, the striatum accumulates amyloid about 3.4 years earlier than the cortex when measured with PiB PET, but florbetapir PET did not detect this early striatal accumulation. It improves understanding of how to detect amyloid onset but does not test any treatment or cure.

12. Towards onset prevention of cognition decline in adults with Down syndrome (The TOP-COG study): A pilot randomised controlled trial Trials · 2016-07-29 · usefulness score 60/100 · Peer-reviewed
    • Clinical Trials
    • Down Syndrome
    • Prevention

    This pilot trial of simvastatin 40 mg versus placebo in adults with Down syndrome aged 50 or older recruited only 21 people and found that Aβ40 levels changed less for the simvastatin group, which was not statistically significant. As a small feasibility study, it does not show that simvastatin prevents dementia.

13. Elevated plasma beta-amyloid peptide Abeta(42) levels, incident dementia, and mortality in Down syndrome Archives of neurology · 2007-07-01 · usefulness score 59/100 · Peer-reviewed
    • Down Syndrome
    • Risk Factors
    • Brain Biology

    In 204 adults with Down syndrome followed over time, those who were not demented at the start and had middle or highest levels of plasma Abeta(42) were more than twice as likely to develop Alzheimer's disease as those with the lowest levels. Among all participants, those in the highest tertile of plasma Abeta(42) at baseline were more than twice as likely to die during the study period.

14. Imaging and plasma biomarkers for pathological accumulation in Down syndrome Brain : a journal of neurology · 2026-06-01 · usefulness score 59/100 · Peer-reviewed
    • Down Syndrome
    • Biomarkers

    These results suggest that all adults with Down syndrome should be screened for Alzheimer's disease pathology starting shortly before age 40 and considered for clinical trials. No treatment or prevention is tested in this work.

15. Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study The Lancet · 2020-06-01 · usefulness score 59/100 · Peer-reviewed
    • Biomarkers
    • Down Syndrome
    • Brain Scans

    Studied 388 adults with Down syndrome in Barcelona and Cambridge, plus 242 controls, to map when Alzheimer's biomarkers change. Some spinal fluid and blood markers changed as early as the third decade of life, with hippocampal atrophy and changes in cognition in the fifth decade, and prodromal Alzheimer's was diagnosed at a median age of 50.2 years and dementia at 53.7 years.

16. Cognitive executive function in Down's syndrome The British journal of clinical psychology · 2006-03-01 · usefulness score 59/100 · Peer-reviewed
    • Down Syndrome
17. Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus Science (New York, N.Y.) · 1987-02-01 · usefulness score 57/100 · Peer-reviewed
    • Genetics
    • Brain Biology
    • Down Syndrome

    This 1987 lab study isolated a DNA copy of the gene for amyloid beta, a main component of the plaques and blood-vessel amyloid seen in Alzheimer's disease and Down syndrome. The authors report that this suggests the protein comes from a larger protein made in many tissues, and that the gene sits on chromosome 21, which could explain why it was over-expressed in brain tissue from fetuses with Down syndrome (who carry an extra copy of that chromosome). Mapping placed the gene near the genetic defect behind inherited Alzheimer's (near, not shown to be that defect), and the study tested no treatment or prevention.

18. The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies Proceedings of the National Academy of Sciences of the United States of America · 2009-07-13 · usefulness score 57/100 · Peer-reviewed
    • Down Syndrome
    • Genetics

    This study mapped regions of chromosome 21 linked to various Down syndrome features, including DS-Alzheimer disease, using genetic data from 30 people with rare partial trisomies. It provides evidence against some proposed genetic explanations but does not offer a treatment or prevention for Alzheimer's disease.

19. Amyloid plaque core protein in Alzheimer disease and Down syndrome Proceedings of the National Academy of Sciences of the United States of America · 1985-06-01 · usefulness score 56/100 · Peer-reviewed
    • Down Syndrome
    • Brain Biology

    This 1985 laboratory study purified the protein at the core of the amyloid plaques found in the brains of people with Alzheimer disease and older people with Down syndrome, and found it is made of clumps of a small protein of "about 40 residues (4 kDa)". It reported that this protein is "almost identical" to the amyloid deposited in brain blood-vessel walls, apart from "ragged" starting ends, which the authors say "indicates a common origin" for the two, and it found "no similarities in amino acid sequences" with scrapie. It describes what plaques are made of, gives no number of brains studied, and does not test whether amyloid causes dementia or how to treat it.

20. Serum Beta-Synuclein Is Higher in Down Syndrome and Precedes Rise of pTau181 Annals of neurology · 2022-04-12 · usefulness score 56/100 · Peer-reviewed
    • Down Syndrome
    • Biomarkers

    In this exploratory case-control study, serum beta-synuclein was higher in adults with Down syndrome and was more pronounced in those with clinical Alzheimer's disease symptoms. The authors highlight it as a potential early marker of Alzheimer's disease, which is about detection rather than treatment.

See all 664 studies in Down syndrome and Alzheimer's, with filters →

• Differential endothelial cell remodeling in Down syndrome and APP duplication drives distinct blood brain barrier dysfunction bioRxiv · 2026-10-30 · usefulness score 16/100 · Preprint — not yet peer-reviewed
  • Down Syndrome
  • Digital Tools
• Memory and Plasma pTau217 Refine Prognosis in Down Syndrome Annals of neurology · 2026-10-02 · usefulness score 47/100 · Peer-reviewed
  • Biomarkers
  • Down Syndrome
• Tau extent is associated with lower cognition in Down syndrome-related Alzheimer's disease Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026-10-01 · usefulness score 53/100 · Peer-reviewed
  • Down Syndrome
  • Brain Biology
• Epilepsy Mechanisms in Down Syndrome: Genetic and Pathophysiological Perspectives Across the Lifespan Journal of clinical medicine · 2026-09-25 · usefulness score 43/100 · Peer-reviewed
  • Down Syndrome
  • Genetics
• Sleep Health in Adults with Intellectual Disability: Recent Advances and Persistent Evidence Gaps Current Treatment Options in Neurology · 2026-09-25 · usefulness score 42/100 · Peer-reviewed
  • Lifestyle
  • Digital Tools
• Epilepsy Mechanisms in Down Syndrome: Genetic and Pathophysiological Perspectives Across the Lifespan Journal of Clinical Medicine · 2026-09-25 · usefulness score 32/100 · Peer-reviewed
  • Down Syndrome
  • Genetics
• Phosphorylated tau 217 in young adults with Down syndrome and Down syndrome regression disorder Communications Medicine · 2026-09-21 · usefulness score 47/100 · Peer-reviewed
  • Down Syndrome
  • Biomarkers
• Down syndrome postmortem brains exhibit reduction in [ 18 F]nifene binding to α4β2* nicotinic acetylcholinergic receptors bioRxiv · 2026-09-15 · usefulness score 16/100 · Preprint — not yet peer-reviewed
  • Down Syndrome
  • Brain Biology
• Longitudinal Dynamics of the Blood Proteome Within the Alzheimer Spectrum in Down Syndrome Neurology · 2026-09-01 · usefulness score 51/100 · Peer-reviewed
  • Down Syndrome
• Changes in serum β-synuclein precede blood biomarkers of Alzheimer pathology in Down syndrome Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026-09-01 · usefulness score 47/100 · Peer-reviewed
  • Down Syndrome
  • Biomarkers

All 664 studies in Down syndrome and Alzheimer's, newest first →

Studies by year published

Counts the 664 studies with a usable publication date. The library is a large sample of published work, not a complete index, so these counts describe the library, not the whole field.

• Getting a diagnosis
• Biomarkers
• Clinical trials
• Prevention and risk
• Caregiving
• How common it is
• Costs and economics
• Genetics
• Laboratory science
• Disease mechanisms
• Vascular contributions
• Prevention trials
• Clinical safety
• Health systems and care delivery
• End-of-life care
• Risk factors
• Digital health tools
• Treatments
• Disparities
• Mild cognitive impairment
• Risk genes beyond APOE
• Brain scans and imaging
• TREM2 and immune genetics
• Cognitive tests and assessment
• Lewy body dementia
• Long-term cohort studies
• Inflammation and the immune system
• Tau biomarkers
• Brain tissue and pathology
• Drug development
• Hippocampus size on brain scans

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