Low Florbetapir PET Uptake and Normal Aβ1-42 Cerebrospinal Fluid in an APP Ala713Thr Mutation Carrier

J Alzheimers Dis. 2017;57(3):697-703. doi: 10.3233/JAD-161170.

Abstract

According to the literature, the APP Ala713Thr mutation is associated with Alzheimer's disease and cerebral amyloid angiopathy. We describe a case of dementia clinically compatible with frontotemporal dementia in an APP Ala713Thr mutation carrier in which both [18F]Florbetapir PET uptake and Aβ1-42 cerebrospinal fluid levels were normal. Further evidences are required to establish if this association is only incidental.

Keywords: APP Ala713Thr; familial Alzheimer’s disease; florbetapir PET; frontotemporal dementia.

Publication types

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

MeSH terms

  • Alanine / genetics
  • Alzheimer Disease* / cerebrospinal fluid
  • Alzheimer Disease* / diagnostic imaging
  • Alzheimer Disease* / genetics
  • Amyloid beta-Peptides / cerebrospinal fluid*
  • Amyloid beta-Protein Precursor / genetics*
  • Aniline Compounds / metabolism
  • Brain / diagnostic imaging
  • Ethylene Glycols / metabolism
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Peptide Fragments / cerebrospinal fluid*
  • Positron-Emission Tomography
  • Threonine / genetics

Substances

  • Amyloid beta-Peptides
  • Amyloid beta-Protein Precursor
  • Aniline Compounds
  • Ethylene Glycols
  • Peptide Fragments
  • amyloid beta-protein (1-42)
  • Threonine
  • florbetapir
  • Alanine