PRNP P39L variant is a rare cause of frontotemporal dementia in Italian population

Emanuela Oldoni, G.G. Fumagalli, M. Serpente, C. Fenoglio, M. Scarioni, A. Arighi, G. Bruno, G. Talarico, A. Confaloni, P. Piscopo, B. Nacmias, S. Sorbi, Innocenzo Rainero, E. Rubino, L. Pinessi, G. Binetti, R. Ghidoni, L. Benussi, G. Grande, B. ArosioDevan Bursey, John S K Kauwe, S.M. Cioffi, M. Arcaro, D. Mari, C. Mariani, E. Scarpini, D. Galimberti

Research output: Contribution to journalArticlepeer-review


The missense P39L variant in the prion protein gene (PRNP) has recently been associated with frontotemporal dementia (FTD). Here, we analyzed the presence of the P39L variant in 761 patients with FTD and 719 controls and found a single carrier among patients. The patient was a 67-year-old male, with a positive family history for dementia, who developed apathy, short term memory deficit, and postural instability at 66. Clinical and instrumental workup excluded prion disease. At MRI, bilateral frontal lobe atrophy was present. A diagnosis of FTD was made, with a mainly apathetic phenotype. The PRNP P39L mutation may be an extremely rare cause of FTD (0.13). © 2016 - IOS Press and the authors.
Original languageEnglish
Pages (from-to)353-357
Number of pages5
JournalJournal of Alzheimer's Disease
Issue number2
Publication statusPublished - 2016


  • Frontotemporal dementia
  • mutation
  • P39L
  • prion
  • PRNP
  • adult
  • aged
  • apathy
  • Article
  • body posture
  • brain atrophy
  • controlled study
  • diffusion weighted imaging
  • family history
  • female
  • frontal lobe
  • frontotemporal dementia
  • gene
  • genetic variability
  • human
  • Italian (citizen)
  • major clinical study
  • male
  • missense mutation
  • nuclear magnetic resonance imaging
  • phenotype
  • priority journal
  • PRNP gene
  • short term memory

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