Low Florbetapir PET Uptake and Normal Aβ_1-42 Cerebrospinal Fluid in an APP Ala713Thr Mutation Carrier

Article type: Short Communication

Authors: Lombardi, Gemma^a | Berti, Valentina^b | Tedde, Andrea^a | Bagnoli, Silvia^a | Piaceri, Irene^a | Polito, Cristina^b | Lucidi, Giulia^{a; c} | Ferrari, Camilla^c | Ginestroni, Andrea^d | Moretti, Marco^d | Pupi, Alberto^b | Nacmias, Benedetta^{a; *} | Sorbi, Sandro^{a; c}

Affiliations: [a] Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy | [b] Department of Biomedical, Experimental and Clinical Sciences “Mario Serio”, Nuclear Medicine Unit, University of Florence, Florence, Italy | [c] IRCCS Don Gnocchi, Florence, Italy | [d] Neuroradiology Unit AOU Careggi, Florence, Italy

Correspondence: [*] Correspondence to: Prof. Benedetta Nacmias, Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy. Tel.: +39 055 7948910; Fax: +39 0552758265; E-mail: [email protected].

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.

Keywords: APP Ala713Thr, familial Alzheimer’s disease, florbetapir PET, frontotemporal dementia

DOI: 10.3233/JAD-161170

Journal: Journal of Alzheimer's Disease, vol. 57, no. 3, pp. 697-703, 2017