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

Emanuela Oldoni, Giorgio G. Fumagalli, Maria Serpente, Chiara Fenoglio, Marta Scarioni, Andrea Arighi, Giuseppe Bruno, Giuseppina Talarico, Annamaria Confaloni, Paola Piscopo, Benedetta Nacmias, Sandro Sorbi, Innocenzo Rainero, Elisa Rubino, Lorenzo Pinessi, Giuliano Binetti, Roberta Ghidoni, Luisa Benussi, Giulia Grande, Beatrice ArosioDevan Bursey, John S. Kauwe, Sara MG Cioffi, Marina Arcaro, Daniela Mari, Claudio Mariani, Elio Scarpini, Daniela Galimberti

Research output: Contribution to journalArticle

Abstract

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).

Original languageEnglish
Pages (from-to)353-357
Number of pages5
JournalJournal of Alzheimer's Disease
Volume50
Issue number2
DOIs
Publication statusPublished - 2016

Keywords

  • Frontotemporal dementia
  • mutation
  • P39L
  • prion
  • PRNP

ASJC Scopus subject areas

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

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