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Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across <i>PSEN1</i> , <i>PSEN2</i> and <i>APP</i> causal genes

2024-11-12

Abstract excerpt

Autosomal Dominant Alzheimer’s Disease (ADAD), caused by mutations in Presenilins ( PSEN1/2 ) and Amyloid Precursor Protein ( APP ) genes, typically manifests before age 65. Age at symptom onset (AAO) is relatively consistent among carriers of the same PSEN1 mutation, but more variable for PSEN2 and APP variants, with these mutations associated with later AAOs than PSEN1 . Understanding this clinical variabi...

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Literature Corpus work
a85ad2c4-e34d-52f2-938c-a92e844d61d2
DOI
10.1101/2024.11.11.622936
Open publication

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