title: PRNP P39L Variant is a Rare Cause of Frontotemporal Dementia in Italian Population.
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%).
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Oldoni
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
authors.forename: Giorgio G
authors.initials: GG
authors.lastname: Fumagalli
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Serpente
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Fenoglio
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Scarioni
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Arighi
authors.affiliation: University "Sapienza", Rome, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Bruno
authors.affiliation: University "Sapienza", Rome, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Talarico
authors.affiliation: Istituto Superiore di Sanitá, Rome, Italy.
authors.forename: Annamaria
authors.initials: A
authors.lastname: Confaloni
authors.affiliation: Istituto Superiore di Sanitá, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Piscopo
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Italy.
authors.forename: Benedetta
authors.initials: B
authors.lastname: Nacmias
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Italy.
authors.forename: Sandro
authors.initials: S
authors.lastname: Sorbi
authors.affiliation: Neurology I, Department of Neuroscience, Department of Neuroscience, University of Torino, Italy.
authors.forename: Innocenzo
authors.initials: I
authors.lastname: Rainero
authors.affiliation: Neurology I, Department of Neuroscience, Department of Neuroscience, University of Torino, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Rubino
authors.affiliation: Neurology I, Department of Neuroscience, Department of Neuroscience, University of Torino, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Pinessi
authors.affiliation: Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
authors.forename: Giuliano
authors.initials: G
authors.lastname: Binetti
authors.affiliation: Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Ghidoni
authors.affiliation: Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Benussi
authors.affiliation: Center for Research and Treatment of Cognitive Dysfunctions, Institute of Clinical Neurology, Department of Biomedical and Clinical Sciences, "Luigi Sacco" Hospital, University of Milan, Milan, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Grande
authors.affiliation: Geriatric Unit, Department of Medical Sciences and Community Health, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
authors.forename: Beatrice
authors.initials: B
authors.lastname: Arosio
authors.affiliation: Department of Biology, Brigham Young University, Provo, UT, USA.
authors.forename: Devan
authors.initials: D
authors.lastname: Bursey
authors.affiliation: Department of Biology, Brigham Young University, Provo, UT, USA.
authors.forename: John S
authors.initials: JS
authors.lastname: Kauwe
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
authors.forename: Sara Mg
authors.initials: SM
authors.lastname: Cioffi
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Arcaro
authors.affiliation: Geriatric Unit, Department of Medical Sciences and Community Health, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Mari
authors.affiliation: Center for Research and Treatment of Cognitive Dysfunctions, Institute of Clinical Neurology, Department of Biomedical and Clinical Sciences, "Luigi Sacco" Hospital, University of Milan, Milan, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Mariani
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
mesh_terms: D000368:Aged; D001284:Atrophy / Q000473:pathology; D005625:Frontal Lobe / Q000473:pathology; D057180:Frontotemporal Dementia / Q000235:genetics* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D007802:Language; D008279:Magnetic Resonance Imaging; D008297:Male; D008569:Memory Disorders / Q000235:genetics* / Q000473:pathology; D008570:Memory, Short-Term / Q000502:physiology; D009483:Neuropsychological Tests; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D013702:Temporal Lobe / Q000473:pathology
chemical_list: C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions
keywords: Frontotemporal dementia; P39L; PRNP; mutation; prion