Longitudinal analysis of a dominantly inherited Alzheimer disease mutation carrier protected from dementia.

doi:10.1038/s41591-025-03494-0

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Article

Longitudinal analysis of a dominantly inherited Alzheimer disease mutation carrier protected from dementia.

Nature medicine - 1 Apr 2025

Llibre-Guerra Jorge J, Fernandez M Victoria, Joseph-Mathurin Nelly, Bian Shijia, Carter Kathleen, Li Yan, Aschenbrenner Andrew J, Pottier Cyril, Sigurdson Wendy, McDade Eric, Gordon Brian A, Renton Alan E, Benzinger Tammie L S, Ibañez Laura, Barthelemy Nico, Johnson Matthew, 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

Abstract excerpt

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...

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PMID: 39930140
DOI: 10.1038/s41591-025-03494-0
PMCID: PMC12024232

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