title: Phenotypic variability associated with the C9ORF72 hexanucleotide repeat expansion: a sporadic case of frontotemporal lobar degeneration with prodromal hyposmia and predominant semantic deficits.
abstract: We describe a sporadic case of frontotemporal lobar degeneration, associated with the C9ORF72 mutation, with prominent behavioral changes and semantic deficits. Predominant deficits in naming, vocabulary, word comprehension, and face and object recognition emerged on neuropsychological assessment. Amnesia, behavioral changes, and isolated psychotic symptoms were also present. Hyposmia was an unspecific prodromal sign. Brain imaging showed basofrontal and temporopolar hypometabolism bilaterally, and predominantly left-sided atrophy. Levels of cerebrospinal fluid biomarkers (amyloid-β, tau and p-tau) were normal. This description further confirms the heterogeneous presentation of the C9ORF72 mutation.
authors: Geriatric Unit, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors: Carlo
authors: C
authors: Abbate
authors: Geriatric Unit, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy Department of Medical Sciences and Community Health, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors: Beatrice
authors: B
authors: Arosio
authors: Neurology Unit, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors: Daniela
authors: D
authors: Galimberti
authors: Geriatric Unit, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors: Paola
authors: P
authors: Nicolini
authors: Geriatric Unit, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors: Lo Russo
authors: LR
authors: Chiara
authors: Geriatric Unit, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors: Paolo Dionigi
authors: PD
authors: Rossi
authors: Geriatric Unit, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors: Evelyn
authors: E
authors: Ferri
authors: Geriatric Unit, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy Department of Medical Sciences and Community Health, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors: Cristina
authors: C
authors: Gussago
authors: Neurology Unit, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors: Milena
authors: M
authors: Deriz
authors: Neurology Unit, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors: Chiara
authors: C
authors: Fenoglio
authors: Neurology Unit, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors: Maria
authors: M
authors: Serpente
authors: Neurology Unit, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors: Elio
authors: E
authors: Scarpini
authors: Geriatric Unit, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy Department of Medical Sciences and Community Health, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors: Daniela
authors: D
authors: Mari
mesh_terms: D000368:Aged; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion / Q000235:genetics*; D019788:Fluorodeoxyglucose F18; D057174:Frontotemporal Lobar Degeneration / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D000860:Hypoxia / Q000209:etiology* / Q000235:genetics; D008297:Male; D008569:Memory Disorders / Q000209:etiology / Q000235:genetics*; D049268:Positron-Emission Tomography; D062706:Prodromal Symptoms; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins; D019788:Fluorodeoxyglucose F18
keywords: C9ORF72; frontotemporal lobar degeneration; hyposmia; phenotype; semantic dementia