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APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer’s Disease

19 Jun 2024

Abstract excerpt

Background Variants in APOE and PSEN1 (encoding apolipoprotein E and presenilin 1, respectively) alter the risk of Alzheimer’s disease. We previously reported a delay of cognitive impairment in a person with autosomal dominant Alzheimer’s disease caused by the PSEN1 E280A variant who also had two copies of the apolipoprotein E3 Christchurch variant ( APOE3 Ch ). Heterozygosity for the APOE3 Ch variant may...

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PMID: 38899694
DOI: 10.1056/nejmoa2308583

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