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La radiologia medica

, Volume 122, Issue 5, pp 369–385 | Cite as

Neuroradiology of human prion diseases, diagnosis and differential diagnosis

  • Simona GaudinoEmail author
  • Emma Gangemi
  • Raffaella Colantonio
  • Annibale Botto
  • Emanuela Ruberto
  • Rosalinda Calandrelli
  • Matia Martucci
  • Maria Gabriella Vita
  • Carlo Masullo
  • Alfonso Cerase
  • Cesare Colosimo
NEURORADIOLOGY

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.

Keywords

Creutzfeldt–Jakob disease Diffusion-weighted imaging Neurodegenerative diseases Differential diagnosis 

Notes

Compliance with Ethical Standards

Funding

This study is not funded.

Conflict of interest

We have no conflict of interest to declare.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

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Copyright information

© Italian Society of Medical Radiology 2017

Authors and Affiliations

  • Simona Gaudino
    • 1
    Email author
  • Emma Gangemi
    • 1
  • Raffaella Colantonio
    • 1
  • Annibale Botto
    • 1
  • Emanuela Ruberto
    • 1
  • Rosalinda Calandrelli
    • 1
  • Matia Martucci
    • 1
  • Maria Gabriella Vita
    • 2
  • Carlo Masullo
    • 2
  • Alfonso Cerase
    • 3
  • Cesare Colosimo
    • 1
  1. 1.Department of Radiological Sciences, Institute of Radiology, Fondazione Policlinico Universitario A. GemelliSchool of Medicine, Catholic UniversityRomeItaly
  2. 2.Institute of Neurology, Fondazione Policlinico Universitario A. GemelliSchool of Medicine, Catholic UniversityRomeItaly
  3. 3.Unit of Neuroimaging and Neurointervention, Department of Neurological and Sensorineural Sciences, Azienda Ospedaliera Università Senese“Santa Maria alle Scotte” University and NHS HospitalSienaItaly

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