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Plasma p-tau217 as a biomarker of Alzheimer's disease pathology in individuals with Down syndrome
Huber H, Arranz J, Arslan B, Leuzy A, Kittel O, di Molfetta G, Benejam B, Videla L et al.. Nature communications, 2025-11-10
Topic: Brain proteins, microglia and lab models
Diagnosing Alzheimer's disease (AD) in adults with Down syndrome (DS), a population with a high genetically determined risk of AD, remains challenging. In this large observational study including n = 2329 samples from the Down Alzheimer Barcelona Neuroimaging Initiative (DABNI) and euploid controls from the Sant Pau Initiative on Neurodegeneration (SPIN) with and without symptomatic AD, we investigate if the strong diagnostic performance of plasma p-tau217 observed in sporadic AD extends to the DS population. Plasma p-tau217 discriminated cognitively stable individuals with DS from those with AD dementia with an AUC of 0.96 (95% CI, 0.95-0.97), and from those with prodromal AD with an AUC of 0.90 (95% CI, 0.87-0.92). Amyloid β (Aβ) positive and Aβ negative individuals with DS were distinguished with an AUC of 0.95 (95% CI, 0.92-0.99). In this study, we demonstrate that plasma p-tau217 is highly accurate in detecting amyloid β positivity and predicting clinical progression in individuals with DS, outperforming other plasma biomarkers. These findings support its use as a reliable, noninvasive tool for early AD detection and management in individuals with DS.
Key findings
- These findings support its use as a reliable, noninvasive tool for early AD detection and management in individuals with DS.
Why it matters
In 2329 samples from people with Down syndrome and controls, plasma p-tau217 detected amyloid positivity and predicted clinical progression with high accuracy. This is an observational diagnostic study and does not test any treatment, cure, or prevention.
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Study details
- Participants2,329
- Evidence strengthLow
How this study scored 53/100
Published in a leading specialty journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Nature communications) |
| Journal's citation record | 4 / 4 | Nature Communications: journal h-index 747 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 4 / 5 | 2025 — within 3 year(s) of the newest study here |
| Sample size | 3 / 4 | 2,329 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 2 / 7 | Cited 7 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 2.3 citations a year over 3 year(s) since 2025 |
| Impact for its field and year | 3 / 6 | Cited 4.4× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 1 / 4 | Cited 7 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Nicholas James Ashton: h-index 91 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University College London: institution h-index 2,029 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 20 institution(s) in 7 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 41213934) |
| Free to read | 2 / 2 | Free to read |
| Total | 53 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1038/s41467-025-65882-x
- PubMed: 41213934
- Original source →
- Free full text: Nature Communications →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Huber, H., Arranz, J., Arslan, B., Leuzy, A., Kittel, O., di Molfetta, G., et al. (2025). Plasma p-tau217 as a biomarker of Alzheimer's disease pathology in individuals with Down syndrome. Nature communications. https://doi.org/10.1038/s41467-025-65882-x
Vancouver
Huber H, Arranz J, Arslan B, Leuzy A, Kittel O, di Molfetta G, et al. Plasma p-tau217 as a biomarker of Alzheimer's disease pathology in individuals with Down syndrome. Nature communications. 2025. doi:10.1038/s41467-025-65882-x. PMID: 41213934.
BibTeX
@article{huber2025-41213934,
author = {Huber, H. and Arranz, J. and Arslan, B. and Leuzy, A. and Kittel, O. and di Molfetta, G. and Benejam, B. and Videla, L. and others},
title = {{Plasma p-tau217 as a biomarker of Alzheimer's disease pathology in individuals with Down syndrome}},
journal = {Nature communications},
year = {2025},
doi = {10.1038/s41467-025-65882-x},
pmid = {41213934},
url = {https://doi.org/10.1038/s41467-025-65882-x}
}
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