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

Autor: Lishuang Shen, Yinghua Chen, Kewei Chen, Silvia Rios-Romenets, Yi Su, Henrik Zetterberg, Moiz Bootwalla, Michael J. O'Hare, Arabiye Artola, Pierre N. Tariot, John B Miller, Dhanesh Amarnani, Ana Baena, Gyungah Jun, Yakeel T. Quiroz, Juliana Acosta-Uribe, Rebecca Reiman, Pradeep Thiyyagura, Marcus Naymik, Kenneth S. Kosik, Aaron P. Schultz, Daniel J. Norton, Matthew J. Huentelman, Keith A. Johnson, Santiago Delgado-Tirado, Enmanuelle Pardilla-Delgado, Francisco Lopera, Reisa A. Sperling, Leo A. Kim, Natalia Chmielewska, Eric M. Reiman, Joseph F. Arboleda-Velasquez, Edmarie Guzmán-Vélez, Xiaowu Gai, Jianling Ji, David Aguillon, Matthew A. Lalli, Justin S. Sanchez, Kahira L. Saez-Torres, Claudia Marino, Kaj Blennow, David Leyton-Cifuentes, Margarita Giraldo, Ji Luo
Rok vydání: 2019
Předmět:
0301 basic medicine
Apolipoprotein E
Male
Aging
Amyloid
Apolipoprotein E2
Immunology
Apolipoprotein E3
Disease
Neurodegenerative
Alzheimer's Disease
Medical and Health Sciences
General Biochemistry
Genetics and Molecular Biology
Presenilin
Article
Pathogenesis
03 medical and health sciences
0302 clinical medicine
Mutation Carrier
Alzheimer Disease
mental disorders
PSEN1
Acquired Cognitive Impairment
Presenilin-1
Medicine
2.1 Biological and endogenous factors
Humans
Cognitive Dysfunction
Aged
business.industry
Prevention
Homozygote
Neurosciences
Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD)
Brain
Neurodegenerative Diseases
General Medicine
Brain Disorders
Pedigree
030104 developmental biology
030220 oncology & carcinogenesis
Mutation (genetic algorithm)
Neurological
Mutation
Dementia
Female
business
Zdroj: Nature medicine
Nature medicine, vol 25, iss 11
ISSN: 1546-170X
Popis: 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.
Databáze: OpenAIRE
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