MR, (18)F-FDG, and (18)F-AV45 PET correlate with AD PSEN1 original phenotype

Alzheimer Dis Assoc Disord. 2013 Jan-Mar;27(1):91-4. doi: 10.1097/WAD.0b013e318251d87c.

Abstract

We report the case of a 37-year-old man suffering from insidious visual agnosia and spastic paraparesis due to a PSEN1 mutation. His mother was diagnosed with Alzheimer disease after a biopsy. He was assessed by multimodal neuroimaging, including new in vivo positron emission tomography amyloid imaging (F-AV45). His data were compared with those from healthy participants and patients with sporadic predemential Alzheimer disease. He exhibited posterior cortical thickness reduction, posterior hypometabolism, and increased amyloid ligand uptake in the posterior cortex and the striatum. We show that F-AV45 positron emission tomography allows visualization of the unusual pattern of amyloid deposits that co-localize with cortical atrophy in this genetic form of Alzheimer disease.

Publication types

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

MeSH terms

  • Adult
  • Alzheimer Disease / diagnostic imaging*
  • Alzheimer Disease / genetics
  • Alzheimer Disease / pathology
  • Aniline Compounds*
  • Brain / diagnostic imaging
  • Brain / pathology
  • Ethylene Glycols*
  • Fluorodeoxyglucose F18
  • Humans
  • Male
  • Phenotype
  • Positron-Emission Tomography / methods*
  • Presenilin-1 / genetics
  • Radiopharmaceuticals*

Substances

  • Aniline Compounds
  • Ethylene Glycols
  • PSEN1 protein, human
  • Presenilin-1
  • Radiopharmaceuticals
  • Fluorodeoxyglucose F18
  • florbetapir