Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report
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 APO...
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| Published in | Nature medicine Vol. 25; no. 11; pp. 1680 - 1683 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Nature Publishing Group
01.11.2019
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| Subjects | |
| Online Access | Get full text |
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| 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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| AbstractList | 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. A unique case from the Colombian cohort of autosomal dominant Alzheimer's disease is reported in which disease progression is substantially delayed despite unusually high amyloid plaque pathology, possibly related to a rare mutation in APOE3. 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. 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.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. |
| Audience | Academic |
| Author | Su, Yi Pardilla-Delgado, Enmanuelle Rios-Romenets, Silvia Johnson, Keith A Lopera, Francisco Acosta-Uribe, Juliana Luo, Ji Miller, John B Schultz, Aaron P Reiman, Eric M Guzmán-Vélez, Edmarie Reiman, Rebecca A Chen, Kewei Chen, Yinghua Kim, Leo A Giraldo, Margarita Chmielewska, Natalia Delgado-Tirado, Santiago Marino, Claudia Leyton-Cifuentes, David Quiroz, Yakeel T Baena, Ana Zetterberg, Henrik Bootwalla, Moiz Aguillon, David Shen, Lishuang Kosik, Kenneth S Thiyyagura, Pradeep Gai, Xiaowu Lalli, Matthew Huentelman, Matthew J Saez-Torres, Kahira L Sanchez, Justin S Arboleda-Velasquez, Joseph F Ji, Jianling Naymik, Marcus Norton, Daniel J Artola, Arabiye Blennow, Kaj O'Hare, Michael Tariot, Pierre N Amarnani, Dhanesh Sperling, Reisa A Jun, Gyungah R |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/31686034$$D View this record in MEDLINE/PubMed https://gup.ub.gu.se/publication/287257$$DView record from Swedish Publication Index |
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| References | M Gisslén (611_CR31) 2015; 3 Y Yamauchi (611_CR16) 2008; 47 JI Velez (611_CR5) 2016; 21 MA Lalli (611_CR9) 2015; 20 N Acosta-Baena (611_CR6) 2011; 10 L Wang (611_CR27) 2016; 73 M Futamura (611_CR35) 2005; 280 A Llado (611_CR2) 2010; 17 JA Becker (611_CR21) 2011; 69 EC Mormino (611_CR29) 2014; 71 S Fisher (611_CR18) 2011; 12 H Braak (611_CR23) 2006; 9 YT Quiroz (611_CR1) 2018; 75 S Thordardottir (611_CR3) 2018; 10 D Smedley (611_CR8) 2016; 99 T Hedden (611_CR30) 2009; 29 EH Corder (611_CR10) 1994; 7 A Lalazar (611_CR14) 1988; 263 JN Rauch (611_CR15) 2018; 8 O Preische (611_CR12) 2019; 25 KA Johnson (611_CR24) 2016; 79 DT Chien (611_CR26) 2014; 34 L Zhong (611_CR19) 2016; 11 MR Wardell (611_CR7) 1987; 80 RW Mahley (611_CR11) 1999; 40 A Butler (611_CR36) 2018; 36 DM Walsh (611_CR33) 2002; 416 WD Knight (611_CR4) 2009; 23 J Logan (611_CR28) 2000; 27 TM Shoup (611_CR25) 2013; 56 AS Fleisher (611_CR20) 2015; 72 T Hashimoto (611_CR13) 2012; 32 DC Aguirre-Acevedo (611_CR17) 2007; 45 E Hudry (611_CR34) 2013; 5 H Braak (611_CR22) 1997; 18 T Hashimoto (611_CR32) 2012; 32 |
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| SubjectTerms | Age Aged Alzheimer Disease - diagnostic imaging Alzheimer Disease - genetics Alzheimer Disease - metabolism Alzheimer Disease - pathology Alzheimer's disease Amyloid - genetics Amyloid - metabolism Apolipoprotein E Apolipoprotein E2 - genetics Apolipoprotein E3 - genetics Brain - diagnostic imaging Brain - metabolism Brain - pathology Brain research Care and treatment Case reports Cognitive ability Cognitive Dysfunction - genetics Cognitive Dysfunction - pathology Dementia Drug resistance Female Gene mutations Homozygote Hospitals Humans Laboratories Male Medical imaging Medical research Medical schools Medical treatment Medicine Medicine, Experimental Mutation Mutation - genetics Neurochemistry Neurodegeneration Neurodegenerative Diseases - genetics Neurodegenerative Diseases - metabolism Neurodegenerative Diseases - pathology Neurology Neurosciences Neurovetenskaper Pathogenesis Pathology Pedigree Presenilin 1 Presenilin-1 - genetics Proteins Research centers Tau protein |
| Title | Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report |
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