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

  • Author(s): 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
  • et al.

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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