A Case of Logopenic Primary Progressive Aphasia with C9ORF72 Expansion and Cortical Florbetapir Binding

Article type: Research Article

Authors: Saint-Aubert, Laure^{a; b; *; 1} | Sagot, Catherine^{c; 1} | Wallon, David^{d; e} | Hannequin, Didier^{d; e} | Payoux, Pierre^{a; b; f} | Nemmi, Federico^{a; b} | Bezy, Catherine^g | Chauveau, Nicolas^{a; b} | Campion, Dominique^{d; e} | Puel, Michèle^{a; b; g} | Chollet, François^{a; b; g} | Pariente, Jérémie^{a; b; g}

Affiliations: [a] Inserm, imagerie cérébrale et handicaps neurologiques, UMR 825; F-31059, Toulouse, France | [b] Université de Toulouse, UPS, imagerie cérébrale et handicaps neurologiques, UMR 825; CHU Purpan, Place du Dr Baylac, F-31059, Toulouse, Cedex 9, France | [c] Service de medecine geriatrique, CHU Pitié Salpêtrière, Paris, France | [d] INSERM U1079, Université de Rouen, Institut de Recherche et d'Innovation Biomédicale, Rouen, France | [e] CNR-MAJ, Rouen University Hospital, Rouen, France | [f] Service de Médecine Nucléaire, Pôle Imagerie, Centre Hospitalier Universitaire de Toulouse, Toulouse, France | [g] Service de neurologie, pôle neurosciences, Centre Hospitalier Universitaire de Toulouse, CHU Purpan, Place du Dr Baylac, Toulouse, France

Correspondence: [*] Correspondence to: Laure Saint-Aubert, INSERM U825 - Pavillon Baudot CHU Purpan, Place Dr Baylac, 31059 Toulouse cedex, France. Tel.: +33 5 62 74 61 88; Fax: +33 5 62 74 61 63; E-mail: [email protected].

Note: [1] These authors contributed equally to this work.

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.

Keywords: Alzheimer's disease, C9ORF72 expansion, florbetapir, logopenic primary aphasia

DOI: 10.3233/JAD-140222

Journal: Journal of Alzheimer's Disease, vol. 42, no. 2, pp. 413-420, 2014