title: Neuroradiology of human prion diseases, diagnosis and differential diagnosis.
abstract: Human transmissible spongiform encephalopathies (TSEs), or prion diseases, are invariably fatal conditions associated with a range of clinical presentations. TSEs are classified as sporadic [e.g. sporadic Creutzfeldt-Jakob disease (sCJD), which is the most frequent form], genetic (e.g. Gerstmann-Straussler-Scheinker disease, fatal familial insomnia, and inherited CJD), and acquired or infectious (e.g. Kuru, iatrogenic CJD, and variant CJD). In the past, brain imaging played a supporting role in the diagnosis of TSEs, whereas nowadays magnetic resonance imaging (MRI) plays such a prominent role that MRI findings have been included in the diagnostic criteria for sCJD. Currently, MRI is required for all patients with a clinical suspicion of TSEs. Thus, MRI semeiotics of TSEs should become part of the cultural baggage of any radiologist. The purposes of this update on the neuroradiology of CJD are to (i) review the pathophysiology and clinical presentation of TSEs, (ii) describe both typical and atypical MRI findings of CJD, and (iii) illustrate diseases mimicking CJD, underlining the MRI key findings useful in the differential diagnosis.
authors.affiliation: Department of Radiological Sciences, Institute of Radiology, Fondazione Policlinico Universitario A. Gemelli, School of Medicine, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy. simona.gaudino@gmail.com.
authors.forename: Simona
authors.identifier: http://orcid.org/0000-0003-1681-4343
authors.initials: S
authors.lastname: Gaudino
authors.affiliation: Department of Radiological Sciences, Institute of Radiology, Fondazione Policlinico Universitario A. Gemelli, School of Medicine, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy.
authors.forename: Emma
authors.initials: E
authors.lastname: Gangemi
authors.affiliation: Department of Radiological Sciences, Institute of Radiology, Fondazione Policlinico Universitario A. Gemelli, School of Medicine, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Colantonio
authors.affiliation: Department of Radiological Sciences, Institute of Radiology, Fondazione Policlinico Universitario A. Gemelli, School of Medicine, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy.
authors.forename: Annibale
authors.initials: A
authors.lastname: Botto
authors.affiliation: Department of Radiological Sciences, Institute of Radiology, Fondazione Policlinico Universitario A. Gemelli, School of Medicine, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Ruberto
authors.affiliation: Department of Radiological Sciences, Institute of Radiology, Fondazione Policlinico Universitario A. Gemelli, School of Medicine, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy.
authors.forename: Rosalinda
authors.initials: R
authors.lastname: Calandrelli
authors.affiliation: Department of Radiological Sciences, Institute of Radiology, Fondazione Policlinico Universitario A. Gemelli, School of Medicine, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy.
authors.forename: Matia
authors.initials: M
authors.lastname: Martucci
authors.affiliation: Institute of Neurology, Fondazione Policlinico Universitario A. Gemelli, School of Medicine, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy.
authors.forename: Maria Gabriella
authors.initials: MG
authors.lastname: Vita
authors.affiliation: Institute of Neurology, Fondazione Policlinico Universitario A. Gemelli, School of Medicine, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Masullo
authors.affiliation: Unit of Neuroimaging and Neurointervention, Department of Neurological and Sensorineural Sciences, Azienda Ospedaliera Università Senese, "Santa Maria alle Scotte" University and NHS Hospital, Viale Mario Bracci, 16, 53100, Siena, Italy.
authors.forename: Alfonso
authors.initials: A
authors.lastname: Cerase
authors.affiliation: Department of Radiological Sciences, Institute of Radiology, Fondazione Policlinico Universitario A. Gemelli, School of Medicine, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy.
authors.forename: Cesare
authors.initials: C
authors.lastname: Colosimo
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D008279:Magnetic Resonance Imaging; D009485:Neuroradiography / Q000379:methods; D017096:Prion Diseases / Q000000981:diagnostic imaging*
keywords: Creutzfeldt–Jakob disease; Differential diagnosis; Diffusion-weighted imaging; Neurodegenerative diseases