Saraceno Lorenzo, Ricigliano Vito A G, Cavalli Michele, Cagol Alessandro, Bosco Giovanna, Moda Fabio, Caroppo Paola, Meola Giovanni
Department of Biomedical Sciences for Health, University of Milan, IRCCS Policlinico San Donato, Milan, Italy.
Department of Neurology, IRCCS Policlinico San Donato, Milan, Italy.
Front Neurol. 2018 Sep 5;9:739. doi: 10.3389/fneur.2018.00739. eCollection 2018.
Sporadic 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.
散发性克雅氏病是最常见的人类朊病毒病。尽管与多种临床表型相关，但其显著特征是存在快速进展的多领域认知障碍。我们描述了一例非典型病例，该患者患有散发性甲硫氨酸/甲硫氨酸1型克雅氏病（通常与早期认知衰退相关），表现为孤立性偏侧投掷症候群，直至死亡都无认知受累迹象。我们回顾了散发性克雅氏病的诊断标准及其自首次制定以来的更新情况，强调了它们在临床诊断检查中的局限性。最后，我们讨论了最近引入的国家克雅氏病研究与监测单位诊断标准，提出了其应用如何能支持早期临床诊断，即使是在像所呈现的这种非典型病例中。
