@article {1474214,
	title = {Resistance to autosomal dominant Alzheimer{\textquoteright}s disease in an APOE3 Christchurch homozygote: a case report},
	journal = {Nat Med},
	volume = {25},
	number = {11},
	year = {2019},
	month = {2019 Nov},
	pages = {1680-1683},
	abstract = {We identified a PSEN1 (presenilin 1) mutation carrier from the world{\textquoteright}s largest autosomal dominant Alzheimer{\textquoteright}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{\textquoteright}s disease.},
	issn = {1546-170X},
	doi = {10.1038/s41591-019-0611-3},
	author = {Arboleda-Velasquez, Joseph F and Lopera, Francisco and O{\textquoteright}Hare, Michael and Delgado-Tirado, Santiago and Marino, Claudia and Chmielewska, Natalia and Saez-Torres, Kahira L and Amarnani, Dhanesh and Schultz, Aaron P and Sperling, Reisa A and Leyton-Cifuentes, David and Chen, Kewei and Baena, Ana and Aguillon, David and Rios-Romenets, Silvia and Giraldo, Margarita and Guzm{\'a}n-V{\'e}lez, Edmarie and Norton, Daniel J and Pardilla-Delgado, Enmanuelle and Artola, Arabiye and Sanchez, Justin S and Acosta-Uribe, Juliana and Lalli, Matthew and Kosik, Kenneth S and Huentelman, Matthew J and Zetterberg, Henrik and Blennow, Kaj and Reiman, Rebecca A and Luo, Ji and Chen, Yinghua and Thiyyagura, Pradeep and Su, Yi and Jun, Gyungah R and Naymik, Marcus and Gai, Xiaowu and Bootwalla, Moiz and Ji, Jianling and Shen, Lishuang and Miller, John B and Kim, Leo A and Tariot, Pierre N and Johnson, Keith A and Reiman, Eric M and Quiroz, Yakeel T}
}
