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Article

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

Neuroscience letters - 18 Jan 2024

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

Abstract excerpt

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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Source

Identifiers

PMID: 38103630
DOI: 10.1016/j.neulet.2023.137591

Genes

PSEN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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