Amyloid Imaging with AV45 (¹⁸F-florbetapir) in a Cognitively Normal AβPP Duplication Carrier

Article type: Research Article

Authors: Saint-Aubert, Laure^{a; b; c} | Planton, Mélanie^{a; b; d} | Hannequin, Didier^e | Albucher, Jean-François^{a; b; d} | Delisle, Marie-Bernadette^f | Payoux, Pierre^{a; g} | Hitzel, Anne^{a; g} | Viallard, Gérard^{a; b} | Péran, Patrice^{a; b} | Campion, Dominique^e | Laquerrière, Annie^h | Barbeau, Emmanuel J.^c | Puel, Michéle^{a; b; d} | Raposo, Nicolas^{a; b; d} | Chollet, François^{a; b; d} | Pariente, Jérémie^{a; b; d; *}

Affiliations: [a] Inserm, Imagerie Cérébrale et Handicaps Neurologiques UMR 825, Toulouse, France | [b] Universitaire de Toulouse, UPS, Imagerie Cérébrale et Handicaps Neurologiques UMR 825, CHU Purpan, Place du Dr Baylac, Toulouse Cedex, France | [c] Université de Toulouse, UPS, Centre de Recherche Cerveau et Cognition, CNRS, CerCo, Toulouse, France | [d] Service de Neurologie, Pôle Neurosciences, Centre Hospitalier Universitaire de Toulouse, CHU Purpan, Place du Dr Baylac, Toulouse Cedex, France | [e] INSERM U 164, CNR-MAJ, Faculté de Médecine, Rouen; Département de Neurologie, CHU Rouen, Rouen cedex, France | [f] Service d'Anatomie Pathologique et Histologie-Cytologie, CHU Rangueil-Larrey, Toulouse, INSERM CRCT U1087, Faculté de Médecine Rangueil, UPS, Toulouse, France | [g] Service de Médecine Nucléaire, Pôle Imagerie, Centre Hospitalier Universitaire de Toulouse, CHU Purpan, Place du Dr Baylac, Toulouse Cedex, France | [h] Service d'Anatomie et Cytologie Pathologiques, CHU Charles Nicolle, Rouen, France

Correspondence: [*] Correspondence to: Jérémie Pariente, Inserm, Imagerie Cérébrale et Handicaps Neurologiques UMR 825, CHU Purpan, Place du Dr Baylac, F-31059 Toulouse Cedex 9, France. Tel.: +33 5 61 77 76 86; Fax: +33 5 61 77 94 43; E-mail: jeremie.pariente@inserm.fr.

Abstract: We report the case of a 62-year-old asymptomatic carrier of AβPP gene duplication. He was investigated by MRI and the amyloid ligand 18F-AV45, and compared to Alzheimer's disease patients (n = 11) and healthy controls (n = 11). The neuropsychological examination was normal. Cortical thickness and AV45 retention were comparable to Alzheimer's disease patients. AβPP duplication was diagnosed because cerebral amyloid angiopathy and Alzheimer's disease pathology were found on the neuropathological examination of his youngest brother, who died at 42 from intracerebral hemorrhage. This is the first description of a pre-symptomatic AβPP duplication carrier over 60, despite widespread cerebral amyloid angiopathy, “Alzheimer's like” atrophy, and amyloid deposition.

Keywords: AβPP duplication, Alzheimer's disease, amyloid, AV45 PET, cerebral amyloid angiopathy, genetics, MRI

DOI: 10.3233/JAD-2011-111598

Journal: Journal of Alzheimer's Disease, vol. 28, no. 4, pp. 877-883, 2012