title: Low Florbetapir PET Uptake and Normal Aβ1-42 Cerebrospinal Fluid in an APP Ala713Thr Mutation Carrier.
abstract: According to the literature, the APP Ala713Thr mutation is associated with Alzheimer's disease and cerebral amyloid angiopathy. We describe a case of dementia clinically compatible with frontotemporal dementia in an APP Ala713Thr mutation carrier in which both [18F]Florbetapir PET uptake and Aβ1-42 cerebrospinal fluid levels were normal. Further evidences are required to establish if this association is only incidental.
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
authors.forename: Gemma
authors.initials: G
authors.lastname: Lombardi
authors.affiliation: Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", Nuclear Medicine Unit, University of Florence, Florence, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Berti
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Tedde
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Bagnoli
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
authors.forename: Irene
authors.initials: I
authors.lastname: Piaceri
authors.affiliation: Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", Nuclear Medicine Unit, University of Florence, Florence, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Polito
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.|IRCCS Don Gnocchi, Florence, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Lucidi
authors.affiliation: IRCCS Don Gnocchi, Florence, Italy.
authors.forename: Camilla
authors.initials: C
authors.lastname: Ferrari
authors.affiliation: Neuroradiology Unit AOU Careggi, Florence, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Ginestroni
authors.affiliation: Neuroradiology Unit AOU Careggi, Florence, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Moretti
authors.affiliation: Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", Nuclear Medicine Unit, University of Florence, Florence, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Pupi
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, 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, Florence, Italy.|IRCCS Don Gnocchi, Florence, Italy.
authors.forename: Sandro
authors.initials: S
authors.lastname: Sorbi
mesh_terms: D000409:Alanine / Q000235:genetics; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid / Q000000981:diagnostic imaging / Q000235:genetics; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D000814:Aniline Compounds / Q000378:metabolism; D001921:Brain / Q000000981:diagnostic imaging; D005026:Ethylene Glycols / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010446:Peptide Fragments / Q000134:cerebrospinal fluid*; D049268:Positron-Emission Tomography; D013912:Threonine / Q000235:genetics
chemical_list: D016229:Amyloid beta-Peptides; D016564:Amyloid beta-Protein Precursor; D000814:Aniline Compounds; D005026:Ethylene Glycols; D010446:Peptide Fragments; C075222:amyloid beta-protein (1-42); D013912:Threonine; C545186:florbetapir; D000409:Alanine
keywords: APP Ala713Thr; familial Alzheimer’s disease; florbetapir PET; frontotemporal dementia