Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report

Joseph F. Arboleda-Velasquez, Francisco Lopera, Michael O’Hare, Santiago Delgado-Tirado, Claudia Marino, Natalia Chmielewska, Kahira L. Saez-Torres, Dhanesh Amarnani, Aaron P. Schultz, Reisa A. Sperling, David Leyton-Cifuentes, Kewei Chen, Ana Baena, David Aguillon, Silvia Rios-Romenets, Margarita Giraldo, Edmarie Guzmán-Vélez, Daniel J. Norton, Enmanuelle Pardilla-Delgado, Arabiye ArtolaJustin S. Sanchez, Juliana Acosta-Uribe, Matthew Lalli, Kenneth S. Kosik, Matthew J. Huentelman, Henrik Zetterberg, Kaj Blennow, Rebecca A. Reiman, Ji Luo, Yinghua Chen, Pradeep Thiyyagura, Yi Su, Gyungah R. Jun, Marcus Naymik, Xiaowu Gai, Moiz Bootwalla, Jianling Ji, Lishuang Shen, John B. Miller, Leo A. Kim, Pierre N. Tariot, Keith A. Johnson, Eric M. Reiman, Yakeel T. Quiroz

Research output: Contribution to journalArticlepeer-review

292 Scopus citations

Abstract

We identified a PSEN1 (presenilin 1) mutation carrier from the world’s largest autosomal dominant Alzheimer’s disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels and limited tau and neurodegenerative measurements. Our findings have implications for the role of APOE in the pathogenesis, treatment and prevention of Alzheimer’s disease.

Original languageEnglish
Pages (from-to)1680-1683
Number of pages4
JournalNature Medicine
Volume25
Issue number11
DOIs
StatePublished - 1 Nov 2019
Externally publishedYes

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