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News: APOE Mutation Linked to Protection... (The Scientist) - Behind the headlines

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Media coverage of health and science topics

The Scientist Nov. 5, 2019

APOE Mutation Linked to Protection From Alzheimer’s: Case Study

A woman whose DNA suggested she'd develop early-onset dementia staved off cognitive decline for decades.

Read more at The Scientist

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Research findings and data from the National Library of Medicine

PubMed articles

Nat Med NOV. 4, 2019

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

JF Arboleda-Velasquez 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 impairme …

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The New York Times NOV. 4, 2019

Why Didn’t She Get Alzheimer’s? The Answer Could Hold a Key to Fighting the Disease (Published 2019)

Researchers have found a woman with a rare genetic mutation that has protected her from dementia even though her brain has developed major neurological features of the disease.

The New York Times DEC. 11, 2020

In Life, She Defied Alzheimer’s. In Death, Her Brain May Show How. (Published 2020)

A woman in Colombia with a rare genetic mutation recently made the ultimate donation to science.

NIH News Releases NOV. 4, 2019

Unique case of disease resistance reveals possible Alzheimer’s treatment

NIH-funded study identifies gene variant as potential drug target.

NIH Research Matters NOV. 26, 2019

Gene variation may protect against Alzheimer’s disease

A woman with an inherited condition that causes early-onset Alzheimer’s disease but who didn’t experience cognitive decline until her 70s appeared to be protected by a rare mutation.

The Washington Post MAY 15, 2023

He defied Alzheimer’s for two decades. Scientists want to know how.

Researchers have identified a rare gene mutation that may have helped protect a Colombian man from developing dementia.