Article
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Molecular psychiatry - 1 Jun 2022
Petit Dieter, Fernández Sara Gutiérrez, Zoltowska Katarzyna Marta, Enzlein Thomas, Ryan Natalie S, O'Connor Antoinette, Szaruga Maria, Hill Elizabeth, Vandenberghe Rik, Fox Nick C, Chávez-Gutiérrez Lucía
Abstract excerpt
Familial Alzheimer's disease (FAD), caused by mutations in Presenilin (PSEN1/2) and Amyloid Precursor Protein (APP) genes, is associated with an early age at onset (AAO) of symptoms. AAO is relatively consistent within families and between carriers of the same mutations, but differs markedly between individuals carrying different mutations. Gaining a mechanistic understanding of why certain mutations manifest...
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