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Rare gene mutation helps people resist Alzheimer’s disease
Researchers have discovered 27 people with a rare gene mutation called Christchurch that helped delay an aggressive form of Alzheimer’s disease for four years.
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PubMed articles
Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report
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 …
The APOE-R136S mutation protects against APOE4-driven Tau pathology, neurodegeneration and neuroinflammation
Apolipoprotein E4 (APOE4) is the strongest genetic risk factor for late-onset Alzheimer's disease (LOAD), leading to earlier age of clinical onset and exacerbating pathol …
APOE Christchurch-mimetic therapeutic antibody reduces APOE-mediated toxicity and tau phosphorylation
We found that one of these antibodies, called 7C11, preferentially bound ApoE4, a major risk factor for sporadic AD, and disrupts heparin-ApoE4 interactions. We also dete …
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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.
Man who defied genetics for decades may hold a clue to preventing Alzheimer's, scientists say | CNN
Researchers working to unlock the secrets of Alzheimer’s disease say they’ve been given a major clue that could help protect people at risk for this type of dementia.
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.
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.
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.