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

Arboleda-Velasquez, JF; Lopera, F; O'Hare, M; Delgado-Tirado, S; Marino, C; Chmielewska, N; Saez-Torres, KL; ... Quiroz, YT; + view all (2019) Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. Nature Medicine , 25 (11) pp. 1680-1683. 10.1038/s41591-019-0611-3. Green open access

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Abstract

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.

Type: Article
Title: Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/s41591-019-0611-3
Publisher version: https://doi.org/10.1038/s41591-019-0611-3
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10087032
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