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

We identified a PSEN1 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. She had two copies of the APOE3 Christchurch (R136S) mutation, unu...

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Autores principales: Arboleda-Velasquez, Joseph F., Lopera, Francisco, O’Hare, Michael, Delgado-Tirado, Santiago, Marino, Claudia, Chmielewska, Natalia, Saez-Torres, Kahira L., Amarnani, Dhanesh, Schultz, Aaron P., Sperling, Reisa A., Leyton-Cifuentes, David, Chen, Kewei, Baena, Ana, Aguillon, David, Rios-Romenets, Silvia, Giraldo, Margarita, Guzmán-Vélez, Edmarie, Norton, Daniel J., Pardilla-Delgado, Enmanuelle, Artola, Arabiye, Sanchez, Justin S., Acosta-Uribe, Juliana, Lalli, Matthew, Kosik, Kenneth S., Huentelman, Matthew J., Zetterberg, Henrik, Blennow, Kaj, Reiman, Rebecca A., Luo, Ji, Chen, Yinghua, Thiyyagura, Pradeep, Su, Yi, Jun, Gyungah R., Naymik, Marcus, Gai, Xiaowu, Bootwalla, Moiz, Ji, Jianling, Shen, Lishuang, Miller, John B., Kim, Leo A., Tariot, Pierre N., Johnson, Keith A., Reiman, Eric M., Quiroz, Yakeel T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6898984/
https://www.ncbi.nlm.nih.gov/pubmed/31686034
http://dx.doi.org/10.1038/s41591-019-0611-3
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author Arboleda-Velasquez, Joseph F.
Lopera, Francisco
O’Hare, Michael
Delgado-Tirado, Santiago
Marino, Claudia
Chmielewska, Natalia
Saez-Torres, Kahira L.
Amarnani, Dhanesh
Schultz, Aaron P.
Sperling, Reisa A.
Leyton-Cifuentes, David
Chen, Kewei
Baena, Ana
Aguillon, David
Rios-Romenets, Silvia
Giraldo, Margarita
Guzmán-Vélez, Edmarie
Norton, Daniel J.
Pardilla-Delgado, Enmanuelle
Artola, Arabiye
Sanchez, Justin S.
Acosta-Uribe, Juliana
Lalli, Matthew
Kosik, Kenneth S.
Huentelman, Matthew J.
Zetterberg, Henrik
Blennow, Kaj
Reiman, Rebecca A.
Luo, Ji
Chen, Yinghua
Thiyyagura, Pradeep
Su, Yi
Jun, Gyungah R.
Naymik, Marcus
Gai, Xiaowu
Bootwalla, Moiz
Ji, Jianling
Shen, Lishuang
Miller, John B.
Kim, Leo A.
Tariot, Pierre N.
Johnson, Keith A.
Reiman, Eric M.
Quiroz, Yakeel T.
author_facet Arboleda-Velasquez, Joseph F.
Lopera, Francisco
O’Hare, Michael
Delgado-Tirado, Santiago
Marino, Claudia
Chmielewska, Natalia
Saez-Torres, Kahira L.
Amarnani, Dhanesh
Schultz, Aaron P.
Sperling, Reisa A.
Leyton-Cifuentes, David
Chen, Kewei
Baena, Ana
Aguillon, David
Rios-Romenets, Silvia
Giraldo, Margarita
Guzmán-Vélez, Edmarie
Norton, Daniel J.
Pardilla-Delgado, Enmanuelle
Artola, Arabiye
Sanchez, Justin S.
Acosta-Uribe, Juliana
Lalli, Matthew
Kosik, Kenneth S.
Huentelman, Matthew J.
Zetterberg, Henrik
Blennow, Kaj
Reiman, Rebecca A.
Luo, Ji
Chen, Yinghua
Thiyyagura, Pradeep
Su, Yi
Jun, Gyungah R.
Naymik, Marcus
Gai, Xiaowu
Bootwalla, Moiz
Ji, Jianling
Shen, Lishuang
Miller, John B.
Kim, Leo A.
Tariot, Pierre N.
Johnson, Keith A.
Reiman, Eric M.
Quiroz, Yakeel T.
author_sort Arboleda-Velasquez, Joseph F.
collection PubMed
description We identified a PSEN1 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. She had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid, and limited tau/tangle and neurodegenerative measurements. Our findings have implications for APOE’s role in the pathogenesis, treatment, and prevention of Alzheimer’s disease.
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spelling pubmed-68989842020-05-04 Resistance to autosomal dominant Alzheimer’s in an APOE3-Christchurch homozygote: a case report Arboleda-Velasquez, Joseph F. Lopera, Francisco O’Hare, Michael Delgado-Tirado, Santiago Marino, Claudia Chmielewska, Natalia Saez-Torres, Kahira L. Amarnani, Dhanesh Schultz, Aaron P. Sperling, Reisa A. Leyton-Cifuentes, David Chen, Kewei Baena, Ana Aguillon, David Rios-Romenets, Silvia Giraldo, Margarita Guzmán-Vélez, Edmarie Norton, Daniel J. Pardilla-Delgado, Enmanuelle Artola, Arabiye Sanchez, Justin S. Acosta-Uribe, Juliana Lalli, Matthew Kosik, Kenneth S. Huentelman, Matthew J. Zetterberg, Henrik Blennow, Kaj Reiman, Rebecca A. Luo, Ji Chen, Yinghua Thiyyagura, Pradeep Su, Yi Jun, Gyungah R. Naymik, Marcus Gai, Xiaowu Bootwalla, Moiz Ji, Jianling Shen, Lishuang Miller, John B. Kim, Leo A. Tariot, Pierre N. Johnson, Keith A. Reiman, Eric M. Quiroz, Yakeel T. Nat Med Article We identified a PSEN1 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. She had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid, and limited tau/tangle and neurodegenerative measurements. Our findings have implications for APOE’s role in the pathogenesis, treatment, and prevention of Alzheimer’s disease. 2019-11-04 2019-11 /pmc/articles/PMC6898984/ /pubmed/31686034 http://dx.doi.org/10.1038/s41591-019-0611-3 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Arboleda-Velasquez, Joseph F.
Lopera, Francisco
O’Hare, Michael
Delgado-Tirado, Santiago
Marino, Claudia
Chmielewska, Natalia
Saez-Torres, Kahira L.
Amarnani, Dhanesh
Schultz, Aaron P.
Sperling, Reisa A.
Leyton-Cifuentes, David
Chen, Kewei
Baena, Ana
Aguillon, David
Rios-Romenets, Silvia
Giraldo, Margarita
Guzmán-Vélez, Edmarie
Norton, Daniel J.
Pardilla-Delgado, Enmanuelle
Artola, Arabiye
Sanchez, Justin S.
Acosta-Uribe, Juliana
Lalli, Matthew
Kosik, Kenneth S.
Huentelman, Matthew J.
Zetterberg, Henrik
Blennow, Kaj
Reiman, Rebecca A.
Luo, Ji
Chen, Yinghua
Thiyyagura, Pradeep
Su, Yi
Jun, Gyungah R.
Naymik, Marcus
Gai, Xiaowu
Bootwalla, Moiz
Ji, Jianling
Shen, Lishuang
Miller, John B.
Kim, Leo A.
Tariot, Pierre N.
Johnson, Keith A.
Reiman, Eric M.
Quiroz, Yakeel T.
Resistance to autosomal dominant Alzheimer’s in an APOE3-Christchurch homozygote: a case report
title Resistance to autosomal dominant Alzheimer’s in an APOE3-Christchurch homozygote: a case report
title_full Resistance to autosomal dominant Alzheimer’s in an APOE3-Christchurch homozygote: a case report
title_fullStr Resistance to autosomal dominant Alzheimer’s in an APOE3-Christchurch homozygote: a case report
title_full_unstemmed Resistance to autosomal dominant Alzheimer’s in an APOE3-Christchurch homozygote: a case report
title_short Resistance to autosomal dominant Alzheimer’s in an APOE3-Christchurch homozygote: a case report
title_sort resistance to autosomal dominant alzheimer’s in an apoe3-christchurch homozygote: a case report
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6898984/
https://www.ncbi.nlm.nih.gov/pubmed/31686034
http://dx.doi.org/10.1038/s41591-019-0611-3
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