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Age of onset predicted by Aβ profiling in a novel PSEN1 (I180F) mutation
Leah Robbie1, Sara Gutiérrez Fernández2, Lucy Montoya1
1Alzheimer's Disease Research Center, Department of Neurology, Center for Health Professions, 1520 Alcazar Street, Suite 210, University of Southern California, Los Angeles, CA 90033, USA.
Neuroscience Letters
|December 16, 2023
Abstract:
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.

