Comparison of tau spread in people with Down syndrome versus autosomal-dominant Alzheimer's disease: a cross-sectional study
Open accessAbstract
Background In people with genetic forms of Alzheimer's disease, such as in Down syndrome and autosomal-dominant Alzheimer's disease, pathological changes specific to Alzheimer's disease (ie, accumulation of amyloid and tau) occur in the brain at a young age, when comorbidities related to ageing are not present. Studies including these cohorts could, therefore, improve our understanding of the early pathogenesis of Alzheimer's disease and be useful when designing preventive interventions targeted at disease pathology or when planning clinical trials. We compared the magnitude, spatial extent, and temporal ordering of tau spread in people with Down syndrome and autosomal-dominant Alzheimer's disease. Methods In this cross-sectional observational study, we included participants (aged ≥25 years) from two cohort studies. First, we collected data from the Dominantly Inherited Alzheimer's Network studies (DIAN-OBS and DIAN-TU), which include carriers of autosomal-dominant Alzheimer's disease genetic mutations and non-carrier familial controls recruited in Australia, Europe, and the USA between 2008 and 2022. Second, we collected data from the Alzheimer Biomarkers Consortium–Down Syndrome study, which includes people with Down syndrome and sibling controls recruited from the UK and USA between 2015 and 2021. Controls from the two studies were combined into a single group of familial controls. All participants had completed structural MRI and tau PET ( 18 F-flortaucipir) imaging. We applied Gaussian mixture modelling to identify regions of high tau PET burden and regions with the earliest changes in tau binding for each cohort separately. We estimated regional tau PET burden as a function of cortical amyloid burden for both cohorts. Finally, we compared the temporal pattern of tau PET burden relative to that of amyloid. Findings We included 137 people with Down syndrome (mean age 38·5 years [SD 8·2], 74 [54%] male, and 63 [46%] female), 49 individuals with autosomal-dominant Alzheimer's disease (mean age 43·9 years [11·2], 22 [45%] male, and 27 [55%] female), and 85 familial controls, pooled from across both studies (mean age 41·5 years [12·1], 28 [33%] male, and 57 [67%] female), who satisfied the PET quality-control procedure for tau-PET imaging processing. 134 (98%) people with Down syndrome, 44 (90%) with autosomal-dominant Alzheimer's disease, and 77 (91%) controls also completed an amyloid PET scan within 3 years of tau PET imaging. Spatially, tau PET burden was observed most frequently in subcortical and medial temporal regions in people with Down syndrome, and within the medial temporal lobe in people with autosomal-dominant Alzheimer's disease. Across the brain, people with Down syndrome had greater concentrations of tau for a given level of amyloid compared with people with autosomal-dominant Alzheimer's disease. Temporally, increases in tau were more strongly associated with increases in amyloid for people with Down syndrome compared with autosomal-dominant Alzheimer's disease. Interpretation Although the general progression of amyloid followed by tau is similar for people Down syndrome and people with autosomal-dominant Alzheimer's disease, we found subtle differences in the spatial distribution, timing, and magnitude of the tau burden between these two cohorts. These differences might have important implications; differences in the temporal pattern of tau accumulation might influence the timing of drug administration in clinical trials, whereas differences in the spatial pattern and magnitude of tau burden might affect disease progression. Funding None.
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Recent natural history studies have highlighted evidence of accelerated AD progression in people who have DSAD, including a more rapid development of tau spread as measured by positron emission tomography and plasma phospho-tau217, and enhanced rates of cortical thinning, after normalising for amyloid-β accumulation.
“Recent natural history studies comparing the development of AD in the general population and DSAD have highlighted evidence of accelerated AD progression in people who have DSAD. This includes a more rapid development of tau spread as measured by positron emission tomography and plasma phospho-tau217 [60, 68, 72], and enhanced rates of cortical thinning [37], after normalising for amyloid-β accum”
From Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome–Alzheimer’s disease (2025) · cites this paper as [68]
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Lifshitz, H., Shnitzer‐Meirovich, S., Koslovsky, M., & Yozevitch, R. (2024) · Scientific Reports · doi:10.1038/s41598-024-74815-5 · Cited by 1 · see citing works
Wagemann, O., Brendel, M., Franzmeier, N., Nübling, G., Gnörich, J. S., Zaganjori, M., Prix, C., Stockbauer, A., Wlasich, E., Loosli, S. V., et al. (2025) · Frontiers in Neuroscience · doi:10.3389/fnins.2024.1505999 · Cited by 1 · see citing works
Self-citationBoccalini, C., Dodich, A., Scheffler, M., Laganà, V., Fratto, E., Frisoni, G. B., Bruni, A. C., Colao, R., Perani, D., & Garibotto, V. (2024) · Neurology · doi:10.1212/wnl.0000000000210103
Decoding Alzheimer's disease through down syndrome: insights from a genetically defined population
Russell, J. K., Schlachetzki, Z., & Rafii, M. S. (2026) · Current Opinion in Neurology · doi:10.1097/wco.0000000000001461
Self-citationMultiomics and proteomic insights into Alzheimer’s disease biology in Down syndrome
Martá-Ariza, M., & Wisniewski, T. R. (2026) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2026.2695187
Multimodal mechanistic pathways in Alzheimer’s disease: toward an integrated model of pathogenesis
Souza, C. D., Nanjundappa, S. M., & Murali, N. (2026) · International Journal of Basic & Clinical Pharmacology · doi:10.18203/2319-2003.ijbcp20262874
Fernández, A., Molanes‐López, E. M., Zuluaga, P., Vaquero, L., Moldenhauer, F., Román, J. M. G., Bajo, R., Lagunas, N., & García‐Alba, J. (2026) · Journal of Neurology · doi:10.1007/s00415-026-14165-6
- Authors
- Wisch, J. K., McKay, N. S., Boerwinkle, A. H., Kennedy, J., Flores, S., Handen, B. L., Christian, B. T., Head, E., Mapstone, M., Rafii, M. S., O’Bryant, S. E., Price, J. C., Laymon, C. M., Krinsky-McHale, S. J., Lai, F., Rosas, H. D., Hartley, S. L., Zaman, S., Lott, I. T., Tudorascu, D., Zammit, M., Brickman, A. M., Lee, J. H., Bird, T. D., Cohen, A., Chrem, P., Daniels, A., Chhatwal, J. P., Cruchaga, C., Ibanez, L., Jucker, M., Karch, C. M., Day, G. S., Lee, J.-H., Levin, J., Llibre-Guerra, J., Li, Y., Lopera, F., Roh, J. H., Ringman, J. M., Supnet-Bell, C., van Dyck, C. H., Xiong, C., Wang, G., Morris, J. C., McDade, E., Bateman, R. J., Benzinger, T. L. S., Gordon, B. A., Ances, B. M., Aizenstein, H. J., Andrews, H. F., Bell, K., Birn, R. M., Bulova, P., Cheema, A., Chen, K., Clare, I., Clark, L., Cohen, A. D., Constantino, J. N., Doran, E. W., Feingold, E., Foroud, T. M., Hartley, S. L., Hom, C., Honig, L., Ikonomovic, M. D., Johnson, S. C., Jordan, C., Kamboh, M. I., Keator, D., Klunk, W. E., Kofler, J. K., Kreisl, W. C., Krinsky-McHale, S. J., Lao, P., Laymon, C., Lott, I. T., Lupson, V., Mathis, C. A., Minhas, D. S., Nadkarni, N., Pang, D., Petersen, M., Price, J. C., Pulsifer, M., Reiman, E., Rizvi, B., Sabbagh, M. N., Schupf, N., Tudorascu, D. L., Tumuluru, R., Tycko, B., Varadarajan, B., White, D. A., Yassa, M. A., Zaman, S., Zhang, F., Bateman, R., Daniels, A. J., Courtney, L., McDade, E., Llibre-Guerra, J. J., Supnet-Bell, C., Xiong, C., Xu, X., Lu, R., Wang, G., Li, Y., Gremminger, E., Perrin, R. J., Franklin, E., Ibanez, L., Jerome, G., Herries, E., Stauber, J., Baker, B., Minton, M., Cruchaga, C., Goate, A. M., Renton, A. E., Picarello, D. M., Benzinger, T., Gordon, B. A., Hornbeck, R., Hassenstab, J., Smith, J., Stout, S., Aschenbrenner, A. J., Karch, C. M., Marsh, J., Morris, J. C., Holtzman, D. M., Barthelemy, N., Xu, J., Noble, J. M., Berman, S. B., Ikonomovic, S., Nadkarni, N. K., Day, G., Graff-Radford, N. R., Farlow, M., Chhatwal, J. P., Ikeuchi, T., Kasuga, K., Niimi, Y., Huey, E. D., Salloway, S., Schofield, P. R., Brooks, W. S., Bechara, J. A., Martins, R., Fox, N. C., Cash, D. M., Ryan, N. S., Jucker, M., Laske, C., Hofmann, A., Kuder-Buletta, E., Graber-Sultan, S., Obermueller, U., Levin, J., Roedenbeck, Y., Vöglein, J., Lee, J.-H., Roh, J. H., Sanchez-Valle, R., Rosa-Neto, P., Allegri, R. F., Chrem Mendez, P., Surace, E., Vazquez, S., Lopera, F., Leon, Y. M., Ramirez, L., Aguillon, D., Levey, A. I., Johnson, E. C. B., Seyfried, N. T., Ringman, J., & Mori, H.
- Affiliations
- Washington University in St. Louis (US)
- University of Pittsburgh (US)
- University of Wisconsin–Madison (US)
- University of California, Irvine (US)
- University of Southern California (US)
- University of North Texas Health Science Center (US)
- Harvard University (US)
- Columbia University Irving Medical Center (US)
- University of Washington (US)
- University of Cambridge (GB)
- Mayo Clinic in Florida (US)
- Hertie Institute for Clinical Brain Research (DE)
- German Center for Neurodegenerative Diseases (DE)
- University of Ulsan (KR)
- Corresponding author
- Wisch, Julie K
- ORCID
- Wisch, Julie K
- McKay, Nicole S
- Boerwinkle, Anna H
- Flores, Shaney
- Handen, Benjamin L
- Christian, Bradley T
- Head, Elizabeth
- Mapstone, Mark
- Rafii, Michael S
- O’Bryant, Sid E
- Lai, Florence
- Rosas, H Diana
- Zammit, Matthew
- Brickman, Adam M
- Lee, Joseph H
- Bird, Thomas D
- Cohen, Annie
- Xiong, Chengjie
- Ances, Beau M
- Aizenstein, Howard J.
- Andrews, Howard F.
- Bell, Karen
- Birn, Rasmus M.
- Cheema, Amrita
- Chen, Kewei
- Clare, Isabel
- Clark, Lorraine
- Cohen, Ann D.
- Constantino, John N.
- Feingold, Eleanor
- Foroud, Tatiana M.
- Hom, Christy
- Honig, Lawrence
- Johnson, Sterling C.
- Kamboh, M. Ilyas
- Keator, David
- Klunk, William E.
- Kofler, Julia K.
- Lao, Patrick
- Mathis, Chester A.
- Minhas, Davneet S.
- Petersen, Melissa
- Reiman, Eric
- Rizvi, Batool
- Sabbagh, Marwan N.
- Schupf, Nicole
- Tycko, Benjamin
- Yassa, Michael A.
- Zhang, Fan
- Xiong, Chengie
- Lu, Ruijin
- Perrin, Richard J.
- Franklin, Erin
- Goate, Alison M.
- Renton, Alan E.
- Picarello, Danielle M.
- Hassenstab, Jason
- Smith, Jennifer
- Stout, Sarah
- Aschenbrenner, Andrew J.
- Marsh, Jacob
- Holtzman, David M.
- Xu, Jinbin
- Noble, James M.
- Berman, Sarah B.
- Nadkarni, Neelesh K.
- Farlow, Martin
- Ikeuchi, Takeshi
- Kasuga, Kensaku
- Niimi, Yoshiki
- Huey, Edward D.
- Salloway, Stephen
- Schofield, Peter R.
- Brooks, William S.
- Bechara, Jacob A.
- Martins, Ralph
- Fox, Nick C.
- Cash, David M.
- Ryan, Natalie S.
- Laske, Christoph
- Vöglein, Jonathan
- Allegri, Ricardo F.
- Surace, Ezequiel
- Aguillon, David
- Levey, Allan I.
- Johnson, Erik C.B
- Seyfried, Nicholas T.
- Mori, Hiroshi
- Venue
- The Lancet Neurology
- Publisher
- Elsevier BV
- Published
- 2024-05
- Volume
- 23
- Issue
- 5
- Pages
- 500-510
- ISSN
- 1474-4422 (ISSN-L)
- PMC
- PMC11209765
- OpenAlex
- W4394800620
- Cited by
- 37
- References
- 36
- Citations by year
- 2026: 7 · 2025: 21 · 2024: 9
- FWCI
- 10.53
- Type
- journal article
- Language
- en
- Update notices
- erratum (2025-05-01)
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/legal/tdmrep-license (tdm)
- www.elsevier.com/open-access/userlicense/1.0/ (am, 167 d)
- doi.org/10.15223/policy-017 (stm-asf)
- doi.org/10.15223/policy-037 (stm-asf)
- doi.org/10.15223/policy-012 (stm-asf)
- doi.org/10.15223/policy-029 (stm-asf)
- doi.org/10.15223/policy-004 (stm-asf)
- Locations
- The Lancet Neurology (acceptedVersion, cc-by)
- PubMed (publishedVersion)
- Conicet (publishedVersion, cc-by-nc-sa)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- UWA Profiles and Research Repository (UWA) (submittedVersion)
- DZNE Pub (submittedVersion)
- Repositorio Digital - Academia Colombiana de Ciencias Exactas, Fisicas y Naturales (submittedVersion)
- Funders
- National Institute on Aging
- NIHR Cambridge Biomedical Research Centre
- Korea Ministry of Health and Welfare
- Alzheimer's Association
- National Institute of Child Health and Human Development
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- 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
- Keywords
- Down syndrome, autosomal dominant Alzheimer's disease, tau spread, tau PET, amyloid PET, medial temporal lobe, subcortical structures
- MeSH terms
- Adult, Alzheimer Disease, Amyloid, Cross-Sectional Studies, Down Syndrome, Female, Humans, Magnetic Resonance Imaging, Male, Amyloid beta-Peptides, tau Proteins, Positron-Emission Tomography, Cognitive Dysfunction
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