Home › Research › Biomarkers
Detection of Brain Tau Pathology in Down Syndrome Using Plasma Biomarkers
Janelidze S, Christian BT, Price J, Laymon C, Schupf N, Klunk WE, Lott I, Silverman W et al.. JAMA neurology, 2022-08-01
Topic: Brain proteins, microglia and lab models
Importance Novel plasma biomarkers, especially phosphorylated tau (p-tau), can detect brain tau aggregates in Alzheimer disease. Objective To determine which plasma biomarker combinations can accurately detect tau pathological brain changes in Down syndrome (DS). Design, setting, and participants The cross-sectional, multicenter Alzheimer's Biomarker Consortium-Down Syndrome study included adults with DS and a control group of siblings without DS. All participants with plasma, positron emission tomography (PET), and cognitive measures available by the time of data freeze 1.0 were included. Participants were enrolled between 2016 and 2019, and data were analyzed from August 2021 to April 2022. Exposures Plasma p-tau217, glial fibrillary acidic protein (GFAP), amyloid β42/40 (Aβ42/Aβ40), neurofilament light (NfL), and total tau (t-tau); tau positron emission tomography (tau-PET) and Aβ-PET. Main outcomes and measures The primary outcome was tau-PET status. Secondary outcomes included Aβ-PET status and cognitive performance. Results Among 300 participants with DS and a control group of 37 non-DS siblings, mean (SD) age was 45.0 (10.1) years, and 167 (49.6%) were men. Among participants with DS who all underwent plasma p-tau217 and GFAP analyses, 258 had other plasma biomarker data available and 119, 213, and 288 participants had tau-PET, Aβ-PET, and cognitive assessments, respectively. Plasma p-tau217 and t-tau were significantly increased in Aβ-PET-positive tau-PET-positive (A+T+) DS and A+T- DS compared with A-T- DS while GFAP was only increased in A+T+ DS. Plasma p-tau217 levels were also significantly higher in A+T+ DS than A+T- DS. In participants with DS, plasma p-tau217 and GFAP (but not other plasma biomarkers) were consistently associated with abnormal tau-PET and Aβ-PET status in models covaried for age (odds ratio range, 1.59 [95% CI, 1.05-2.40] to 2.32 [95% CI, 1.36-3.96]; P Conclusions and relevance Plasma p-tau217 is a very accurate blood-based biomarker of both tau and Aβ pathological brain changes in DS that could help guide screening and enrichment strategies for inclusion of individuals with DS in future AD clinical trials, especially when it is combined with age as a covariate.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Janelidze, S., Christian, B. T., Price, J., Laymon, C., Schupf, N., Klunk, W. E., et al. (2022). Detection of Brain Tau Pathology in Down Syndrome Using Plasma Biomarkers. JAMA neurology. https://doi.org/10.1001/jamaneurol.2022.1740
Vancouver
Janelidze S, Christian BT, Price J, Laymon C, Schupf N, Klunk WE, et al. Detection of Brain Tau Pathology in Down Syndrome Using Plasma Biomarkers. JAMA neurology. 2022. doi:10.1001/jamaneurol.2022.1740. PMID: 35789365.
BibTeX
@article{janelidze2022-35789365,
author = {Janelidze, S. and Christian, B. T. and Price, J. and Laymon, C. and Schupf, N. and Klunk, W. E. and Lott, I. and Silverman, W. and others},
title = {{Detection of Brain Tau Pathology in Down Syndrome Using Plasma Biomarkers}},
journal = {JAMA neurology},
year = {2022},
doi = {10.1001/jamaneurol.2022.1740},
pmid = {35789365},
url = {https://doi.org/10.1001/jamaneurol.2022.1740}
}
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.
Key findings
- Results Among 300 participants with DS and a control group of 37 non-DS siblings, mean (SD) age was 45.0 (10.1) years, and 167 (49.6%) were men.
- Plasma p-tau217 and t-tau were significantly increased in Aβ-PET-positive tau-PET-positive (A+T+) DS and A+T- DS compared with A-T- DS while GFAP was only increased in A+T+ DS.
- Plasma p-tau217 levels were also significantly higher in A+T+ DS than A+T- DS.
- In participants with DS, plasma p-tau217 and GFAP (but not other plasma biomarkers) were consistently associated with abnormal tau-PET and Aβ-PET status in models covaried for age (odds ratio range, 1.59 [95% CI, 1.05-2.40] to 2.32 [95% CI, 1.36-3.96]; P < .03).
Why it matters
In this cross-sectional study of adults with Down syndrome, plasma p-tau217 and GFAP were associated with tau-PET and amyloid-PET status. It is a diagnostic biomarker study and does not report any treatment, cure, or prevention of Alzheimer's disease.
New to this subject? Start with our plain-English guide: Blood tests & biomarkers →
Study details
- Study designcross-sectional
- Participants300
- Effect size49.6%
- Evidence strengthLow
How this study scored 64/100
Published in a leading specialty journal, and it is a snapshot of people at one point in time. Scored zero for randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (JAMA neurology) |
| Journal's citation record | 2 / 4 | JAMA Neurology: journal h-index 235 (OpenAlex, 2026-10-29) |
| Study design | 4 / 12 | A snapshot of people at one point in time |
| 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 | 3 / 5 | 2022 — within 6 year(s) of the newest study here |
| Sample size | 2 / 4 | 300 participants |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| 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 | 4 / 7 | Cited 60 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 10.0 citations a year over 6 year(s) since 2022 |
| Impact for its field and year | 3 / 6 | Cited 7.1× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 8 other studies in this library |
| Still being cited | 2 / 4 | Cited 48 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Oskar Hansson: h-index 148 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | Harvard University: institution h-index 3,235 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 10 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 35789365) |
| Free to read | 2 / 2 | Free to read |
| Total | 64 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1001/jamaneurol.2022.1740
- PubMed: 35789365
- Original source →
- Free full text: PubMed Central →
Full text: free to read — PubMed Central lists this copy as free to read: the link above (checked 10 Oct 2026).
Studies this one cites
Referenced by this study and also in the alzhub library, so you can read them here. Showing 12 of 19.
Later studies that cite this one
8 studies in the alzhub library list this one in their references.
Related studies in Biomarkers
Also tagged “phosphorylated”
732 studies in the library carry the topic tag “phosphorylated”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 732 tagged studies.