Posterior Accumulation of Tau and Concordant Hypometabolism in an Early-Onset Alzheimer's Disease Patient with Presenilin-1 Mutation

J Alzheimers Dis. 2016;51(2):339-43. doi: 10.3233/JAD-151004.


It is unclear whether the distribution of tau pathology differs between cases with early-onset familial Alzheimer's disease (AD) and sporadic AD. We present positron emission tomography (PET) data from a young patient with a presenilin-1 mutation (Thr116Asn). 18F-flutemetamol PET showed a distribution of amyloid-β fibrils similar to sporadic AD. However, the pattern of tau pathology, revealed using 18F-AV1451 PET, showed higher uptake in posterior cingulate, precuneus, parietal and occipital cortices compared to late-onset sporadic AD. Further, the tau pathology, but not amyloid pathology, exhibited a very clear inverse relationship with 18F-fluorodeoxyglucose-metabolism, indicating neuronal hypometabolism in regions affected by tau aggregates.

Keywords: Alzheimer’s disease; positron-emission tomography; presenilins; tau proteins.

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Alzheimer Disease / diagnostic imaging
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / metabolism*
  • Amyloid beta-Peptides / metabolism
  • Aniline Compounds
  • Benzothiazoles
  • Brain / diagnostic imaging*
  • Brain / metabolism*
  • Brain Mapping
  • Fluorodeoxyglucose F18
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Positron-Emission Tomography
  • Presenilin-1 / genetics*
  • Radiopharmaceuticals
  • tau Proteins / metabolism*


  • Amyloid beta-Peptides
  • Aniline Compounds
  • Benzothiazoles
  • MAPT protein, human
  • PSEN1 protein, human
  • Presenilin-1
  • Radiopharmaceuticals
  • tau Proteins
  • flutemetamol
  • Fluorodeoxyglucose F18