| Literature DB >> 26757195 |
Emanuela Oldoni1, Giorgio G Fumagalli1, Maria Serpente1, Chiara Fenoglio1, Marta Scarioni1, Andrea Arighi1, Giuseppe Bruno2, Giuseppina Talarico2, Annamaria Confaloni3, Paola Piscopo3, Benedetta Nacmias4, Sandro Sorbi4, Innocenzo Rainero5, Elisa Rubino5, Lorenzo Pinessi5, Giuliano Binetti6, Roberta Ghidoni6, Luisa Benussi6, Giulia Grande7, Beatrice Arosio8, Devan Bursey9, John S Kauwe9, Sara Mg Cioffi1, Marina Arcaro1, Daniela Mari8, Claudio Mariani7, Elio Scarpini1, Daniela Galimberti1.
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%).Entities:
Keywords: Frontotemporal dementia; P39L; PRNP; mutation; prion
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Year: 2016 PMID： 26757195 DOI： 10.3233/JAD-150863
Source DB: PubMed Journal: J Alzheimers Dis ISSN： 1387-2877 Impact factor: 4.472