Brief ReportsBrain 18F-Florbetapir PET/CT Findings in an Early-onset Alzheimer Disease Patient Carrying Presenilin-1 G378E MutationCistaro, Angelina MD*,†; Quartuccio, Natale MD†,‡; Cassalia, Laura MD§; Vai, Daniela MD∥; Guerra, Ugo Paolo MD†; Atzori, Cristiana MD∥; Rainero, Innocenzo PhD¶; Imperiale, Daniele MD∥ Author Information *Nuclear Medicine Department, Ospedali Galliera, Genoa †AIMN Neuroimaging Study Group, Milan ‡Nuclear Medicine Unit, A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli, Palermo §Department of Radiology, Institute of Radiology, “Magna Grecia” University, Catanzaro ∥Neurology Unit and Human TSE Regional Center, “Amedeo di Savoia” & “Maria Vittoria” Hospital, Turin ¶Neurology I, Department of Neuroscience “Rita Levi Montalcini,” University of Torino, Torino, Italy The authors declare no conflicts of interest. Reprints: Angelina Cistaro, MD, Nuclear Medicine Department, Ente Ospedaliero Ospedali Galliera, Via Mura delle Cappuccine 14, Genoa 16128, Italy (e-mail: [email protected]). Alzheimer Disease & Associated Disorders 36(4):p 347-349, October–December 2022. | DOI: 10.1097/WAD.0000000000000461 Buy Metrics Abstract Positron emission tomography (PET) with 18F-Fluorodeoxyglucose (18F-FDG) plays an outstanding role in the diagnostic work-up of dementia. Amyloid PET imaging is a complementary imaging technique for the early detection of Alzheimer disease (AD). β-amyloid precursor protein (APP), Presenilin-1 (PSEN1) and Presenilin-2 (PSEN2) are the 3 main causative genes responsible for autosomal dominant early-onset Alzheimer disease (EOAD). This is the first report of 18F-Florbetapir amyloid imaging findings in a 35-year-old male patient with EOAD carrying the G378E mutation in PSEN1 gene. Brain computed tomography (CT) and magnetic resonance imaging scans showed remarkable cerebral atrophy with dilatation of the cerebrospinal fluid spaces; furthermore, a 18F-Florbetapir PET/CT scan demonstrated also widespread remarkable accumulation of the amyloid tracer in the cerebral cortex, with reduction of the normal contrast between white and gray matter and flattening of the external cortical margins. Furthermore, PET/CT showed intense 18F-florbetapir uptake in the striatum and in the thalamus bilaterally. Our case supports the usefulness of amyloid PET imaging in the diagnostic work-up of EOAD. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.