Longitudinal analysis of a dominantly inherited Alzheimer disease mutation carrier protected from dementia
Open accessAbstract
We conducted an in-depth longitudinal study on an individual carrying the presenilin 2 p.Asn141Ile mutation, traditionally associated with dominantly inherited Alzheimer's disease (AD), who has remarkably remained asymptomatic past the expected age of clinical onset. This study combines genetic, neuroimaging and biomarker analyses to explore the underpinnings of this resilience. Unlike typical progression in dominantly inherited AD, tau pathology in this case was confined to the occipital region without evidence of spread, potentially explaining the preservation of cognitive functions. Genetic analysis revealed several variants that, although not previously associated with protection against AD, suggest new avenues for understanding disease resistance. Notably, environmental factors such as significant heat exposure and a unique proteomic profile rich in heat shock proteins might indicate adaptive mechanisms contributing to the observed phenotype. This case underscores the complexity of Alzheimer's pathology and suggests that blocking tau deposition could be a promising target for therapeutic intervention. The study highlights the need for further research to identify and validate the mechanisms that could inhibit or localize tau pathology as a strategy to mitigate or delay the onset of Alzheimer's dementia.
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- Authors
- Llibre-Guerra, J. J., Fernandez, M. V., Joseph-Mathurin, N., Bian, S., Carter, K., Li, Y., Aschenbrenner, A. J., Pottier, C., Sigurdson, W., McDade, E., Gordon, B. A., Renton, A. E., Benzinger, T. L. S., Ibañez, L., Barthelemy, N., Johnson, M., Hassenstab, J., Wang, G., Goate, A. M., Western, D., Wang, C., Hobbs, D., Daniels, A., Karch, C., Morris, J. C., Cruchaga, C., Johnson, E. C. B., Bateman, R. J., on behalf of the Dominantly Inherited Alzheimer Network, Aguillon, D., Allegri, R. F., Baena, A., Baker, B., Banks, J., Barthélemy, N. R., Bartzel, J., Bateman, R., Bechara, J. A., Berman, S. B., Bocanegra, Y., Brooks, W. S., Cash, D. M., Chen, A., Chen, C., Chhatwal, J. P., Mendez, P. C., Courtney, L., Daniels, A. J., Day, G. S., Devenney, E., Fagan, A. M., Farlow, M., Flores, S., Fox, N. C., Franklin, E., Fulton-Howard, B., Goyal, M., Graber-Sultan, S., Graff-Radford, N. R., Gremminger, E., Hellm, C., Holtzman, D. M., Hornbeck, R., Huey, E. D., Ibanez, L., Ikeuchi, T., Ikonomovic, S., Ishiguro, T., Ishii, K., Jackson, K., Jerome, G., Jucker, M., Karch, C. M., Kasuga, K., Keefe, S., Koudelis, D., Kuder-Buletta, E., la Fougère, C., Laske, C., Lee, J.-H., Levey, A. I., Levin, J., Leon, Y. M., Lopera, F., Lu, R., Maa, C., Marsh, J., Martin, M., Martins, R., Massoumzadeh, P., Masters, C., McCullough, A., McKay, N., Minton, M., Mori, H., Nicklaus, J., Nie, Y., Niimi, Y., Noble, J. M., Obermueller, U., Perrin, R. J., Picarello, D. M., Pulizos, C., Ramirez, L., Reischl, G., Ringman, J., Rizzo, J., Rödenbeck, Y., Roh, J. H., Rosa-Neto, P., Ryan, N. S., Sabaredzovic, E., Salloway, S., Sanchez-Valle, R., Schofield, P. R., Scott, J., Senda, M., Serna, L., Seyfried, N. T., Simmons, A., Skrbec, K., Smith, J., Stauber, J., Stout, S., Supnet-Bell, C., Surace, E., Timofejavaite, R., Vazquez, S., Vlassenko, A., Vöglein, J., Wang, Q., Wang, Y., Xiong, C., Xu, X., Xu, J., Ziegemeier, A., & Ziegemeier, E.
- Affiliations
- Emory University (US)
- Washington University in St. Louis (US)
- Icahn School of Medicine at Mount Sinai (US)
- Universidad de Antioquia (CO)
- University of Pittsburgh (US)
- UCL Queen Square Institute of Neurology (GB)
- Brigham and Women's Hospital (US)
- Mayo Clinic in Florida (US)
- Tokyo Metropolitan Institute of Gerontology (JP)
- German Center for Neurodegenerative Diseases (DE)
- Korea University (KR)
- Edith Cowan University (AU)
- The University of Melbourne (AU)
- Columbia University Irving Medical Center (US)
- University of Southern California (US)
- ORCID
- Llibre-Guerra, Jorge J.
- Joseph-Mathurin, Nelly
- Bian, Shijia
- Carter, Kathleen
- Li, Yan
- Aschenbrenner, Andrew J.
- Pottier, Cyril
- McDade, Eric
- Gordon, Brian A.
- Renton, Alan E.
- Benzinger, Tammie L. S.
- Hassenstab, Jason
- Wang, Guoqiao
- Goate, Alison M.
- Western, Dan
- Wang, Ciyang
- Hobbs, Diana
- Daniels, Alisha
- Karch, Celeste
- Morris, John C.
- Cruchaga, Carlos
- Johnson, Erik C. B.
- Bateman, Randall J.
- Aguillon, David
- Allegri, Ricardo F.
- Baena, Ana
- Banks, Jessica
- Barthélemy, Nicolas R.
- Bechara, Jacob A.
- Berman, Sarah B.
- Bocanegra, Yamile
- Brooks, William S.
- Cash, David M.
- Chen, Allison
- Chen, Charles
- Chhatwal, Jasmeer P.
- Day, Gregory S.
- Devenney, Emma
- Fagan, Anne M.
- Farlow, Martin
- Flores, Shaney
- Fox, Nick C.
- Franklin, Erin
- Goyal, Manu
- Holtzman, David M.
- Hornbeck, Russ
- Huey, Edward D.
- Ikeuchi, Takeshi
- Ishiguro, Takanobu
- Ishii, Kenji
- Jucker, Mathias
- Kasuga, Kensaku
- Keefe, Sarah
- Laske, Christoph
- Lee, Jae-Hong
- Levey, Allan I.
- Levin, Johannes
- Lopera, Francisco
- Lu, Ruijin
- Marsh, Jacob
- Martins, Ralph
- Massoumzadeh, Parinaz
- Masters, Colin
- McCullough, Austin
- McKay, Nicole
- Mori, Hiroshi
- Nicklaus, Joyce
- Niimi, Yoshiki
- Noble, James M.
- Perrin, Richard J.
- Picarello, Danielle M.
- Reischl, Gerald
- Ringman, John
- Roh, Jee Hoon
- Ryan, Natalie S.
- Salloway, Stephen
- Schofield, Peter R.
- Scott, Jalen
- Senda, Michio
- Seyfried, Nicholas T.
- Smith, Jennifer
- Stout, Sarah
- Surace, Ezequiel
- Vlassenko, Andrei
- Vöglein, Jonathan
- Wang, Yong
- Xiong, Chengjie
- Xu, Jinbin
- Venue
- Nature Medicine
- Published
- 2025-02-10
- Volume
- 31
- Issue
- 4
- Pages
- 1267-1275
- ISSN
- 1078-8956 (ISSN-L)
- 1546-170X
- OpenAlex
- W4407317759
- Cited by
- 28
- References
- 43
- Citations by year
- 2026: 15 · 2025: 13
- FWCI
- 18.02
- Type
- journal article
- Language
- en
- Open access
- Licence
- Locations
- Nature Medicine (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UWA Profiles and Research Repository (UWA) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- National Institute on Aging (UF1AG032438, U19AG032438, K08AG068604, K01AG080123, K01AG073526, P30AG066514)
- 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 › Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- presenilin 2, mutation carriers, disease resistance, asymptomatic carriers, tau pathology, heat exposure, heat shock proteins, proteomic profile, tau-targeted therapy, neuroimaging biomarkers
- MeSH terms
- Alzheimer Disease, Dementia, Female, Genes, Dominant, Heterozygote, Humans, Longitudinal Studies, Male, Middle Aged, Mutation, tau Proteins, Presenilin-2
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