A novel PSENEN mutation in a patient with complaints of memory loss and a family history of dementia

Diego Albani, Sara Batelli, Marzia Pesaresi, Francesca Prato, Letizia Polito, Gianluigi Forloni, Roberta Pantieri

Research output: Contribution to journalArticlepeer-review


Presenilin enhancer-2 (PSENEN) is a fundamental component of the γ-secretase protein complex involved in β-amyloid precursor protein (βAPP) processing, a key event in Alzheimer's disease (AD) etiopathogenesis. In a mild cognitive impairment (MCI)-diagnosed woman, belonging to a family with a positive history for AD, we found that a novel PSENEN mutation (S73F) was the only genetic alteration of relevance. The mutation was absent in 253 age-matched controls. In an attempt to learn the biochemical effects of this mutation, we cultured skin primary fibroblasts from the patient and her daughter, and we assessed Aβ(1-40) and Aβ(1-42) production. We did not find any relevant differences in comparison to age-matched, normal subjects. Although our data do not definitively support a pathogenetic role for this mutation, it does not appear to be a common polymorphism. Further follow-up is warranted in this family.

Original languageEnglish
Pages (from-to)235-238
Number of pages4
JournalAlzheimer's and Dementia
Issue number3
Publication statusPublished - Jul 2007


  • Alzheimer's disease
  • Amyloid beta-protein
  • Neurogenetics
  • PSENEN gene
  • Skin primary fibroblast

ASJC Scopus subject areas

  • Health Policy
  • Epidemiology
  • Geriatrics and Gerontology
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience
  • Developmental Neuroscience
  • Clinical Neurology


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