title: Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype.
abstract: Increasing evidence has shown that morphological and functional neuroimaging may help to understand the pathophysiological mechanisms leading to behavioral disturbances in patients with genetic or sporadic frontotemporal dementia (FTD). The C9orf72 expansion was found in association with the N267S TARDBP mutation in two siblings with behavioral-variant FTD (bvFTD). In one of them with very mild dementia, MRI showed symmetric atrophy of temporal, inferolateral and orbital frontal cortex, while [18F]FDG-PET disclosed more extended hypometabolism in dorsolateral and inferolateral frontal cortex, anterior cingulate, and caudate nucleus. Hypometabolism in right lateral and orbital frontal cortex was confirmed also in comparison with a group of sporadic bvFTD patients. These findings appear as the neuroimaging hallmark of double C9orf72 and TARDBP gene mutation with a bvFTD phenotype.
authors.affiliation: a Department of Internal Medicine , University of Genoa , Genoa , Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Origone
authors.forename: Jennifer
authors.initials: J
authors.lastname: Accardo
authors.forename: Simonetta
authors.initials: S
authors.lastname: Verdiani
authors.forename: Merit
authors.initials: M
authors.lastname: Lamp
authors.forename: Dario
authors.initials: D
authors.lastname: Arnaldi
authors.forename: Emilia
authors.initials: E
authors.lastname: Bellone
authors.forename: Agnese
authors.initials: A
authors.lastname: Picco
authors.forename: Silvia
authors.initials: S
authors.lastname: Morbelli
authors.forename: Paola
authors.initials: P
authors.lastname: Mandich
authors.forename: Flavio
authors.initials: F
authors.lastname: Nobili
mesh_terms: D001921:Brain / Q000473:pathology*; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion; D004268:DNA-Binding Proteins / Q000235:genetics*; D057180:Frontotemporal Dementia / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D059906:Neuroimaging; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D035781:Siblings
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D004268:DNA-Binding Proteins; D011506:Proteins; C000598624:TARDBP protein, human
keywords: C9orf72; FDG-PET; MRI; TARDBP; bvFTD