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1. Brain 18F-FDG PET/CT findings in a case of genetic Creutzfeldt-Jakob disease due to V203I heterozygous mutation in the PRNP gene.

Author

Cistaro, A., Cassalia, L., Ferrara, C., Atzori, C., Vai, D., Quartuccio, N., Fania, P., Vaudano, G., and Imperiale, D.

Subjects
*CREUTZFELDT-Jakob disease, *CENTRAL nervous system diseases, *GENETIC code, *PRIONS, *MAGNETIC resonance imaging of the brain
Abstract

The article discusses the case of a 48-year-old woman with genetic Creutzfeldt-Jakob disease (gCJD) resulting from heterozigotic mutation in 203 codon (V203I) of prion protein (PRNP) gene. It also presents the brain findings on 18F-fluorodeoxyglucose positron emission tomography-computed tomography study (18F-FDG PET/CT). Topics discussed include decreased 18F-FDG uptake bilaterally in frontal-parietotemporal corticles, and V203I pathogenic mutation in heterozygosity and MV codon 129 genotype.

Published
2017
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