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

Laure Saint-Aubert, Pierre Payoux, Didier Hannequin, Emmanuel J. Barbeau, Dominique Campion, Marie Bernadette Delisle, Mathieu Tafani, Gérard Viallard, Patrice Péran, Michèle Puel, François Chollet, Jean François Demonet, Jérémie Pariente

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)91-94
Number of pages4
JournalAlzheimer Disease and Associated Disorders
Issue number1
Publication statusPublished - Jan 2013


  • Alzheimer disease
  • amyloid
  • AV45
  • genetics
  • MRI
  • PET

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Psychiatry and Mental health
  • Gerontology
  • Clinical Psychology


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