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 mutation,...

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Autori principali:	Sara Gutiérrez Fernández, Cristina Gan Oria, Dieter Petit, Wim Annaert, John M. Ringman, Nick C. Fox, Natalie S. Ryan, Lucía Chávez-Gutiérrez
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2025-04-01
Serie:	Molecular Neurodegeneration
Soggetti:	Presenilin APP Amyloid-β Age at dementia onset and Familial Alzheimer’s disease Autosomal dominant Alzheimer’s disease
Accesso online:	https://doi.org/10.1186/s13024-025-00832-1
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