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Age of onset predicted by Aß profiling in a novel PSEN1 (I180F) mutation.
Robbie, Leah; Fernández, Sara Gutiérrez; Montoya, Lucy; Sagare, Abhay; Barrera, Lilibeth; Sheikh-Bahaei, Nasim; Gutierrez, Lucia Chavez; Ringman, John M.
Neurosci Lett ; 820: 137591, 2024 Jan 18.
Article in English | MEDLINE | ID: mdl-38103630

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 Aß species produced in an in vitro model.


Subject(s)
Alzheimer Disease , Amyloid beta-Peptides , Presenilin-1 , Humans , Age of Onset , Alzheimer Disease/diagnosis , Alzheimer Disease/genetics , Alzheimer Disease/metabolism , Amino Acids , Amyloid beta-Peptides/genetics , Amyloid beta-Peptides/metabolism , Biomarkers , Mutation , Presenilin-1/genetics , Presenilin-1/metabolism
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