Age of onset predicted by Aβ profiling in a novel PSEN1 (I180F) mutation.

Leah Robbie,Sara Gutiérrez Fernández, Lucy Montoya,Abhay Sagare, Lilibeth Barrera,Nasim Sheikh-Bahaei,Lucia Chavez Gutierrez,John M Ringman

Neuroscience letters（2023）

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摘要

We describe a novel I180F mutation in PSEN1 in which biomarker-supported Alzheimer's disease (AD) segregated in two affected family members. The affected amino acid is highly conserved across species and in silico models predict pathogenicity for AD. The mean age of onset was 56 which was reasonably predicted by the pattern of Aβ species produced in an in vitro model.

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