Frontal Variant of Alzheimer's Disease: A Report of a Novel PSEN1 Mutation

J Alzheimers Dis. 2019;70(1):11-15. doi: 10.3233/JAD-190363.

Abstract

Alzheimer's disease may mimic frontotemporal dementia. We describe a case of presenile dementia who presented with peudo-psychotic symptoms carrying a PSEN1 mutation (P355 S), which was not known to be pathogenic. PET-FDG showed bilateral frontotemporal hypometabolism, but at MRI, multiple microbleeds were detected, suggestive of amyloid angiopathy.

Keywords: Behavioral variant; presenile dementia; presenilin 1 mutation.

Publication types

  • Case Reports

MeSH terms

  • Alzheimer Disease / diagnostic imaging
  • Alzheimer Disease / genetics*
  • Atrophy / diagnostic imaging
  • Atrophy / genetics
  • Female
  • Frontal Lobe / diagnostic imaging*
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Mutation*
  • Presenilin-1 / genetics*

Substances

  • PSEN1 protein, human
  • Presenilin-1