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  • Arboleda-Velasquez, Joseph F (author)

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

  • Article/chapterEnglish2019

Publisher, publication year, extent ...

  • 2019-11-04
  • Springer Science and Business Media LLC,2019

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/287257
  • https://gup.ub.gu.se/publication/287257URI
  • https://doi.org/10.1038/s41591-019-0611-3DOI

Supplementary language notes

  • Language:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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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  • Lopera, Francisco (author)
  • O'Hare, Michael (author)
  • Delgado-Tirado, Santiago (author)
  • Marino, Claudia (author)
  • Chmielewska, Natalia (author)
  • Saez-Torres, Kahira L (author)
  • Amarnani, Dhanesh (author)
  • Schultz, Aaron P (author)
  • Sperling, Reisa A (author)
  • Leyton-Cifuentes, David (author)
  • Chen, Kewei (author)
  • Baena, Ana (author)
  • Aguillon, David (author)
  • Rios-Romenets, Silvia (author)
  • Giraldo, Margarita (author)
  • Guzmán-Vélez, Edmarie (author)
  • Norton, Daniel J (author)
  • Pardilla-Delgado, Enmanuelle (author)
  • Artola, Arabiye (author)
  • Sanchez, Justin S (author)
  • Acosta-Uribe, Juliana (author)
  • Lalli, Matthew (author)
  • Kosik, Kenneth S (author)
  • Huentelman, Matthew J (author)
  • Zetterberg, Henrik,1973Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry(Swepub:gu)xzethe (author)
  • Blennow, Kaj,1958Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry(Swepub:gu)xbleka (author)
  • Reiman, Rebecca A (author)
  • Luo, Ji (author)
  • Chen, Yinghua (author)
  • Thiyyagura, Pradeep (author)
  • Su, Yi (author)
  • Jun, Gyungah R (author)
  • Naymik, Marcus (author)
  • Gai, Xiaowu (author)
  • Bootwalla, Moiz (author)
  • Ji, Jianling (author)
  • Shen, Lishuang (author)
  • Miller, John B (author)
  • Kim, Leo A (author)
  • Tariot, Pierre N (author)
  • Johnson, Keith A (author)
  • Reiman, Eric M (author)
  • Quiroz, Yakeel T (author)
  • Göteborgs universitetInstitutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi (creator_code:org_t)

Related titles

  • In:Nature medicine: Springer Science and Business Media LLC25:11, s. 1680-16831546-170X1078-8956

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