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

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

Abstract 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 m...

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Bibliographic Details
Main Authors: Sara Gutiérrez Fernández, Cristina Gan Oria, Dieter Petit, Wim Annaert, John M. Ringman, Nick C. Fox, Natalie S. Ryan, Lucía Chávez-Gutiérrez
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Molecular Neurodegeneration
Subjects:
Presenilin
APP
Amyloid-β
Age at dementia onset and Familial Alzheimer’s disease
Autosomal dominant Alzheimer’s disease
Online Access:https://doi.org/10.1186/s13024-025-00832-1
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