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The Role of PET Imaging in Patients with Prion Disease: A Literature Review

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Abstract

Prion diseases are rare, rapidly progressive, and fatal incurable degenerative brain disorders caused by the misfolding of a normal protein called PrPC into an abnormal protein called PrPSc. Their highly variable clinical presentation mimics various degenerative and non-degenerative brain disorders, making diagnosis a significant challenge for neurologists. Currently, definitive diagnosis relies on post-mortem examination of nervous tissue to detect the pathogenic prion protein. The current diagnostic criteria are limited. While structural magnetic resonance imaging (MRI) remains the gold standard imaging modality for Creutzfeldt-Jakob disease (CJD) diagnosis, positron emission tomography (PET) using 18fluorine-fluorodeoxyglucose (18F-FDG) and other radiotracers have demonstrated promising potential in the diagnostic assessment of prion disease. In this context, a comprehensive and updated review exclusively focused on PET imaging in prion diseases is still lacking. We review the current value of PET imaging with 18F-FDG and non-FDG tracers in the diagnostic management of prion diseases. From the collected data, 18F-FDG PET mainly reveals cortical and subcortical hypometabolic areas in prion disease, although fails to identify typical pattern or laterality abnormalities to differentiate between genetic and sporadic prion diseases. Although the rarity of prion diseases limits the establishment of a definitive hypometabolism pattern, this review reveals some more prevalent 18F-FDG patterns associated with each disease subtype. Interestingly, in both sporadic and genetic prion diseases, the hippocampus does not show significant glucose metabolism alterations, appearing as a useful sign in the differential diagnosis with other neurodegenerative disease. In genetic prion disease forms, PET abnormality precedes clinical manifestation. Discordant diagnostic value for amyloid tracers among different prion disease subtypes was observed, needing further investigation. PET has emerged as a potential valuable tool in the diagnostic armamentarium for CJD. Its ability to visualize functional and metabolic brain changes provides complementary information to structural MRI, aiding in the early detection and confirmation of CJD.

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Authors and Affiliations

  1. Department of Neuroscience, Imaging and Clinical Sciences, “G. d′Annunzio” University of Chieti-Pescara, Chieti, Italy

    Maria Vittoria Mattoli

  2. Nuclear Medicine Unit, Ospedale Santo Spirito, Pescara, Italy

    Maria Vittoria Mattoli

  3. Dipartimento Di Diagnostica Per Immagini, Radioterapia Oncologica ed Ematologia, UOC Di Medicina Nucleare, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy

    Romina Grazia Giancipoli, Fabrizio Cocciolillo, Maria Lucia Calcagni & Silvia Taralli

  4. Dipartimento Universitario Di Scienze Radiologiche Ed Ematologiche, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy

    Maria Lucia Calcagni

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Mattoli, M.V., Giancipoli, R.G., Cocciolillo, F. et al. The Role of PET Imaging in Patients with Prion Disease: A Literature Review. Mol Imaging Biol 26, 195–212 (2024). https://doi.org/10.1007/s11307-024-01895-0

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