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

Journal article
Authors 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 Artola
Justin 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
Published in Nature medicine
Volume 25
Issue 11
Pages 1680-1683
ISSN 1546-170X
Publication year 2019
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 1680-1683
Language en
Links dx.doi.org/10.1038/s41591-019-0611-...
www.ncbi.nlm.nih.gov/entrez/query.f...
Subject categories Neurochemistry

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.

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