Detection of Brain Tau Pathology in Down Syndrome Using Plasma Biomarkers
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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 < .03). A combination of p-tau217 and age performed best when detecting tau-PET abnormality in temporal and neocortical regions (area under the curve [AUC] range, 0.96-0.99). The most parsimonious model for Aβ-PET status included p-tau217, t-tau, and age (AUC range, 0.93-0.95). In multivariable models, higher p-tau217 levels but not other biomarkers were associated with worse performance on DS Mental Status Examination (β, -0.24, 95% CI, -0.36 to -0.12; P < .001) and Cued Recall Test (β, -0.40; 95% CI, -0.53 to -0.26; P < .001). 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.
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This relationship is observed across the AD continuum, including the asymptomatic phase in sporadic and genetic forms of AD.
“This relationship is observed across the AD continuum, including the asymptomatic phase in sporadic and genetic forms of AD.11,12,13,14”
From Diagnostic Accuracy of a Plasma Phosphorylated Tau 217 Immunoassay for Alzheimer Disease Pathology (2024) · cites this paper as [13]
The Results (Plasma Biomarkers by Diagnostic Groups and PET Status; page not specified) report biomarker differences in cognitively stable participants with Down syndrome, supporting an observation before cognitive symptoms in a genetic form of AD. The Introduction discusses related findings in sporadic AD, but this study does not establish that the same relationship is observed across the full AD continuum, including the asymptomatic phase of sporadic AD. (LLM, conf=0.82)
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- Authors
- Janelidze, S., Christian, B. T., Price, J., Laymon, C., Schupf, N., Klunk, W. E., Lott, I., Silverman, W., Rosas, H. D., Zaman, S., Mapstone, M., Lai, F., Ances, B. M., Handen, B. L., & Hansson, O.
- Affiliations
- Lund University (SE)
- University of Wisconsin–Madison (US)
- Harvard University (US)
- University of Pittsburgh (US)
- Columbia University Irving Medical Center (US)
- University of California, Irvine (US)
- University of Cambridge (GB)
- Washington University in St. Louis (US)
- Corresponding author
- Janelidze, Shorena
- Handen, Benjamin L.
- ORCID
- Venue
- JAMA Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 2022-08-01
- Volume
- 79
- Issue
- 8
- Pages
- 797
- ISSN
- 2168-6149 (ISSN-L)
- PMC
- PMC9257682
- OpenAlex
- W4283826849
- Cited by
- 60
- References
- 42
- Citations by year
- 2026: 12 · 2025: 18 · 2024: 19 · 2023: 9 · 2022: 2
- FWCI
- 7.82
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- JAMA Neurology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Digital Commons@Becker (Washington University School of Medicine) (submittedVersion, cc-by)
- Lund University Publications (Lund University) (submittedVersion)
- Funders
- Knut och Alice Wallenbergs Stiftelse
- Vetenskapsrådet (2016-00906)
- Marcus och Amalia Wallenbergs minnesfond
- National Institute on Aging (U01AG051406, U19AG068054, P30AG062715, U24AG021886)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- Down syndrome, tau pathology, phosphorylated tau, plasma biomarkers, tau PET, amyloid PET, glial fibrillary acidic protein, neurofilament light chain, amyloid-beta, total tau, Alzheimer's disease, cognitive performance, combined biomarker detection
- MeSH terms
- Adult, Alzheimer Disease, Brain, Cross-Sectional Studies, Down Syndrome, Female, Humans, Male, Middle Aged, Biomarkers, Amyloid beta-Peptides, tau Proteins, Positron-Emission Tomography, Cognitive Dysfunction
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