- Main
Resistance to autosomal dominant Alzheimer’s disease 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
Published Web Location
https://doi.org/10.1038/s41591-019-0611-3Abstract
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.
Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.
Main Content
Enter the password to open this PDF file:
-
-
-
-
-
-
-
-
-
-
-
-
-
-