• Lorenzo Saraceno, Vito A G Ricigliano, Michele Cavalli, Alessandro Cagol, Giovanna Bosco, Fabio Moda, Paola Caroppo, and Giovanni Meola.
• Department of Biomedical Sciences for Health, University of Milan, IRCCS Policlinico San Donato, Milan, Italy.
• Front Neurol. 2018 Jan 1; 9: 739.

AbstractSporadic Creutzfeldt-Jakob disease is the most common human prion disorder. Although associated with heterogeneous clinical phenotypes, its distinctive feature is the presence of a rapidly progressive multidomain cognitive impairment. We describe the atypical case of a patient affected by sporadic Methionine/Methionine type 1 Creutzfeldt-Jakob disease (typically associated with early cognitive decline) who presented with an isolated hemiballic syndrome and no signs of cognitive involvement until death. We review sporadic Creutzfeldt-Jakob disease diagnostic criteria and their updates since their first formulation, highlighting their limitations in clinical diagnostic work-up. Finally, we discuss the recently introduced National Creutzfeldt-Jakob Disease Research and Surveillance Unit diagnostic criteria, suggesting how their application could support an early clinical diagnosis, even in atypical cases, such as the one presented.

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