Article

The Curious Case of a Heterozygous Loss-of-Function PSEN1 variant associated with Early-Onset Alzheimer’s Disease

2025-08-27

Abstract excerpt

<title>Abstract</title> <p>Background Over 300 mutations in <italic>PSEN1</italic> have been identified as causes of early-onset Alzheimer’s disease (EOAD). While these include missense mutations and a few insertions, deletions, or duplications, none result in open reading frame shifts, and all alter γ-secretase function to increase the long/short Aβ ratio. Methods We identified a novel heterozygous <italic>PSEN1...

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Literature Corpus work: 8d2252b3-b435-5702-9cdb-07b50ab3cc8a
DOI: 10.21203/rs.3.rs-7222993/v1

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