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

Neurosci Lett. 2024 Jan 18:820:137591. doi: 10.1016/j.neulet.2023.137591. Epub 2023 Dec 14.

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.

Keywords: Autosomal dominant; Aβ; Flortaucipir; Gamma-secretase; I180F; PSEN1.

MeSH terms

  • Age of Onset
  • Alzheimer Disease* / diagnosis
  • Alzheimer Disease* / genetics
  • Alzheimer Disease* / metabolism
  • Amino Acids
  • Amyloid beta-Peptides* / genetics
  • Amyloid beta-Peptides* / metabolism
  • Biomarkers
  • Humans
  • Mutation
  • Presenilin-1* / genetics
  • Presenilin-1* / metabolism

Substances

  • Amino Acids
  • Amyloid beta-Peptides
  • Biomarkers
  • Presenilin-1
  • PSEN1 protein, human