Article
Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.
Molecular neurodegeneration - 26 Apr 2025
Fernández Sara Gutiérrez, Oria Cristina Gan, Petit Dieter, Annaert Wim, Ringman John M, Fox Nick C, Ryan Natalie S, Chávez-Gutiérrez Lucía
Abstract excerpt
BACKGROUND: Autosomal Dominant Alzheimer's Disease (ADAD), caused by mutations in Presenilins (PSEN1/2) and Amyloid Precursor Protein (APP) genes, typically manifests with early onset (< 65 years). 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...
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