title: A case of logopenic primary progressive aphasia with C9ORF72 expansion and cortical florbetapir binding.
abstract: We report the case of a 65-year-old woman, clinically diagnosed with the logopenic variant of primary progressive aphasia (PPA), and carrier of C9ORF72 expansion, despite cerebrospinal fluid biomarkers suggesting Alzheimer's disease (AD). She underwent structural MRI, metabolic PET, and amyloid PET imaging using florbetapir. Comparison with healthy controls revealed widespread hypometabolism, left sided cortical atrophy, and an increased cortical amyloid load. No difference in amyloid binding was found between the patient and predemential AD patients. This case provides evidence of amyloidopathy in a carrier of C9ORF72 expansion exhibiting a clinical profile of the logopenic variant of PPA.
authors.affiliation: Inserm, imagerie cérébrale et handicaps neurologiques, UMR 825; F-31059, Toulouse, France Université de Toulouse, UPS, imagerie cérébrale et handicaps neurologiques, UMR 825; CHU Purpan, Place du Dr Baylac, F-31059, Toulouse, Cedex 9, France.
authors.forename: Laure
authors.initials: L
authors.lastname: Saint-Aubert
authors.affiliation: Service de medecine geriatrique, CHU Pitié Salpêtrière, Paris, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Sagot
authors.affiliation: INSERM U1079, Université de Rouen, Institut de Recherche et d'Innovation Biomédicale, Rouen, France CNR-MAJ, Rouen University Hospital, Rouen, France.
authors.forename: David
authors.initials: D
authors.lastname: Wallon
authors.affiliation: INSERM U1079, Université de Rouen, Institut de Recherche et d'Innovation Biomédicale, Rouen, France CNR-MAJ, Rouen University Hospital, Rouen, France.
authors.forename: Didier
authors.initials: D
authors.lastname: Hannequin
authors.affiliation: Inserm, imagerie cérébrale et handicaps neurologiques, UMR 825; F-31059, Toulouse, France Université de Toulouse, UPS, imagerie cérébrale et handicaps neurologiques, UMR 825; CHU Purpan, Place du Dr Baylac, F-31059, Toulouse, Cedex 9, France Service de Médecine Nucléaire, Pôle Imagerie, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Payoux
authors.affiliation: Inserm, imagerie cérébrale et handicaps neurologiques, UMR 825; F-31059, Toulouse, France Université de Toulouse, UPS, imagerie cérébrale et handicaps neurologiques, UMR 825; CHU Purpan, Place du Dr Baylac, F-31059, Toulouse, Cedex 9, France.
authors.forename: Federico
authors.initials: F
authors.lastname: Nemmi
authors.affiliation: Service de neurologie, pôle neurosciences, Centre Hospitalier Universitaire de Toulouse, CHU Purpan, Place du Dr Baylac, Toulouse, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Bezy
authors.affiliation: Inserm, imagerie cérébrale et handicaps neurologiques, UMR 825; F-31059, Toulouse, France Université de Toulouse, UPS, imagerie cérébrale et handicaps neurologiques, UMR 825; CHU Purpan, Place du Dr Baylac, F-31059, Toulouse, Cedex 9, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Chauveau
authors.affiliation: INSERM U1079, Université de Rouen, Institut de Recherche et d'Innovation Biomédicale, Rouen, France CNR-MAJ, Rouen University Hospital, Rouen, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Campion
authors.affiliation: Inserm, imagerie cérébrale et handicaps neurologiques, UMR 825; F-31059, Toulouse, France Université de Toulouse, UPS, imagerie cérébrale et handicaps neurologiques, UMR 825; CHU Purpan, Place du Dr Baylac, F-31059, Toulouse, Cedex 9, France Service de neurologie, pôle neurosciences, Centre Hospitalier Universitaire de Toulouse, CHU Purpan, Place du Dr Baylac, Toulouse, France.
authors.forename: Michèle
authors.initials: M
authors.lastname: Puel
authors.affiliation: Inserm, imagerie cérébrale et handicaps neurologiques, UMR 825; F-31059, Toulouse, France Université de Toulouse, UPS, imagerie cérébrale et handicaps neurologiques, UMR 825; CHU Purpan, Place du Dr Baylac, F-31059, Toulouse, Cedex 9, France Service de neurologie, pôle neurosciences, Centre Hospitalier Universitaire de Toulouse, CHU Purpan, Place du Dr Baylac, Toulouse, France.
authors.forename: François
authors.initials: F
authors.lastname: Chollet
authors.affiliation: Inserm, imagerie cérébrale et handicaps neurologiques, UMR 825; F-31059, Toulouse, France Université de Toulouse, UPS, imagerie cérébrale et handicaps neurologiques, UMR 825; CHU Purpan, Place du Dr Baylac, F-31059, Toulouse, Cedex 9, France Service de neurologie, pôle neurosciences, Centre Hospitalier Universitaire de Toulouse, CHU Purpan, Place du Dr Baylac, Toulouse, France.
authors.forename: Jérémie
authors.initials: J
authors.lastname: Pariente
mesh_terms: D000368:Aged; D018888:Aphasia, Primary Progressive / Q000235:genetics* / Q000473:pathology*; D001931:Brain Mapping; D000073885:C9orf72 Protein; D002540:Cerebral Cortex / Q000473:pathology*; D005260:Female; D019788:Fluorodeoxyglucose F18; D006801:Humans; D021621:Imaging, Three-Dimensional; D008279:Magnetic Resonance Imaging; D049268:Positron-Emission Tomography; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins; D019788:Fluorodeoxyglucose F18
keywords: Alzheimer's disease; C9ORF72 expansion; florbetapir; logopenic primary aphasia