A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype

J Alzheimers Dis. 2009;16(3):509-11. doi: 10.3233/JAD-2009-0986.

Abstract

Presenilin mutations are the main cause of familial Alzheimer's disease. So far, more than 160 mutations in the Presenilin 1 gene (PSEN1) and approximately 10 mutations in the homologous Presenilin 2 gene (PSEN2) have been identified. Some PSEN1 mutations are associated with a phenotype fulfilling the clinical criteria of frontotemporal dementia. In PSEN2, T122P and M239V mutations presented with severe behavioral disturbances. We describe an Italian patient with a novel PSEN2 mutation (Y231C) who showed behavioral abnormalities and language impairment as presenting symptoms, with later involvement of other cognitive abilities, particularly of posterior functions.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / epidemiology
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Attention Deficit and Disruptive Behavior Disorders / epidemiology
  • Attention Deficit and Disruptive Behavior Disorders / genetics*
  • Attention Deficit and Disruptive Behavior Disorders / pathology
  • Family Health
  • Female
  • Humans
  • Italy / epidemiology
  • Language Disorders / epidemiology
  • Language Disorders / genetics*
  • Language Disorders / pathology
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Point Mutation
  • Presenilin-2 / genetics*
  • Prevalence

Substances

  • PSEN2 protein, human
  • Presenilin-2