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Nat Med. 2019 Nov;25(11):1680-1683. doi: 10.1038/s41591-019-0611-3. Epub 2019 Nov 4.

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

Author information

1
Schepens Eye Research Institute of Mass Eye and Ear and Department of Ophthalmology, Harvard Medical School, Boston, MA, USA. joseph_arboleda@meei.harvard.edu.
2
Grupo de Neurociencias de Antioquia de la Universidad de Antioquia, Medellin, Colombia.
3
Schepens Eye Research Institute of Mass Eye and Ear and Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
4
Boston College, Boston, MA, USA.
5
Massachusetts General Hospital and Department of Neurology, Harvard Medical School, Boston, MA, USA.
6
Brigham and Women's Hospital and the Department of Neurology, Harvard Medical School, Boston, MA, USA.
7
Universidad Escuela de Ingenieria de Antioquia-EIA, Medellin, Colombia.
8
The Banner Alzheimer's Institute, Phoenix, AZ, USA.
9
University of Arizona, Tucson, AZ, USA.
10
Arizona State University, Tempe, AZ, USA.
11
Massachusetts General Hospital and the Department of Psychiatry, Harvard Medical School, Boston, MA, USA.
12
Department of Psychology, Gordon College, Wenham, MA, USA.
13
Neuroscience Research Institute, Department of Molecular Cellular Developmental Biology, University of California, Santa Barbara, Santa Barbara, CA, USA.
14
Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, AZ, USA.
15
Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.
16
Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden.
17
Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
18
UK Dementia Research Institute at UCL, London, UK.
19
Department of Medicine, Boston University School of Medicine, Boston, MA, USA.
20
Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
21
Department of Pathology, Keck School of Medicine of University of Southern California, Los Angeles, CA, USA.
22
Mass Eye and Ear and Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
23
Massachusetts General Hospital and Department of Radiology, Harvard Medical School, Boston, MA, USA.
24
The Banner Alzheimer's Institute, Phoenix, AZ, USA. eric.reiman@bannerhealth.com.
25
University of Arizona, Tucson, AZ, USA. eric.reiman@bannerhealth.com.
26
Arizona State University, Tempe, AZ, USA. eric.reiman@bannerhealth.com.
27
Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, AZ, USA. eric.reiman@bannerhealth.com.
28
Grupo de Neurociencias de Antioquia de la Universidad de Antioquia, Medellin, Colombia. yquiroz@mgh.harvard.edu.
29
Massachusetts General Hospital and Department of Neurology, Harvard Medical School, Boston, MA, USA. yquiroz@mgh.harvard.edu.
30
Massachusetts General Hospital and the Department of Psychiatry, Harvard Medical School, Boston, MA, USA. yquiroz@mgh.harvard.edu.

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.

PMID:
31686034
PMCID:
PMC6898984
[Available on 2020-05-04]
DOI:
10.1038/s41591-019-0611-3
[Indexed for MEDLINE]

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