A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman

Simon Kang Seng Ting, Tammie Benzinger, Vladimir Kepe, Anne Fagan, Giovanni Coppola, Verna Porter, Silva Hecimovic, Suma Chakraverty, Ana Isabel Alvarez-Retuerto, Alison Goate, John M. Ringman

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

Mutations in PSEN1 are the most common cause of autosomal dominant familial Alzheimer's disease (FAD). We describe an African-American woman with a family history consistent with FAD who began to experience cognitive decline at age 50. Her clinical presentation, MRI, FDG-PET, and PIB-PET scan findings were consistent with AD and she was found to have a novel I238M substitution in PSEN1. As this mutation caused increased production of Aβ42 in an in vitro assay, was not present in two population databases, and is conserved across species, it is likely to be pathogenic for FAD.

Original languageEnglish
Pages (from-to)271-275
Number of pages5
JournalJournal of Alzheimer's Disease
Volume40
Issue number2
DOIs
StatePublished - 2014

Keywords

  • African
  • Alzheimer's disease
  • PIB-PET
  • PSEN1
  • autosomal dominant
  • familial
  • gamma-secretase
  • in vitro
  • presenilin-1

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