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

Arboleda-Velasquez, Joseph F (author)
Lopera, Francisco (author)
O'Hare, Michael (author)
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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, 1973 (author)
Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Blennow, Kaj, 1958 (author)
Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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)
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 (creator_code:org_t)
2019-11-04
2019
English.
In: Nature medicine. - : Springer Science and Business Media LLC. - 1546-170X .- 1078-8956. ; 25:11, s. 1680-1683
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Neurosciences (hsv//eng)

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art (subject category)

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