Manco Carlo, Righi Delia, Pucci Barbara, Damiano Bruno, Mignarri Andrea, De Stefano Nicola, Plantone Domenico
Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
BMC Geriatr. 2025 Aug 11;25(1):613. doi: 10.1186/s12877-025-06290-0.
We report an atypical case of Creutzfeldt-Jakob Disease (CJD) mimicking Frontotemporal Dementia (FTD) in a 68-year-old male. The patient initially presented with an anxious-depressive syndrome, progressing over 29 months to include dysexecutive syndrome, stereotyped speech, inertia, social withdrawal, verbal fluency impairments, and marked dyspraxia. Diagnostic imaging revealed signal alterations on MRI, while CSF analysis showed elevated T-TAU, neurofilament light chain (NfL), and glial fibrillary acidic protein (GFAP) levels. A second-generation RT-QuIC (SG-RT-QuIC) confirmed prion disease, with genetic testing identifying a codon 129 MV polymorphism and a deletion in the third octapeptide repeat. This case highlights the importance of integrating advanced diagnostic tools, such as SG-RT-QuIC and comprehensive genotyping, in evaluating atypical presentations of CJD. Early elevated GFAP levels highlight the usefulness of considering neuroinflammatory markers in slowly progressive forms of CJD.
我们报告了一例68岁男性的非典型克雅氏病（CJD），其临床表现酷似额颞叶痴呆（FTD）。患者最初表现为焦虑抑郁综合征，在29个月内病情进展，出现执行功能障碍综合征、刻板言语、惰性、社交退缩、语言流畅性受损以及明显的失用症。诊断性影像学检查显示MRI上有信号改变，而脑脊液分析显示T-TAU、神经丝轻链（NfL）和胶质纤维酸性蛋白（GFAP）水平升高。第二代实时震颤诱导转化（SG-RT-QuIC）检测证实为朊病毒病，基因检测发现密码子129处为MV多态性以及第三个八肽重复序列存在缺失。该病例突出了整合先进诊断工具（如SG-RT-QuIC和全面基因分型）在评估CJD非典型表现中的重要性。早期GFAP水平升高凸显了在CJD缓慢进展形式中考虑神经炎症标志物的有用性。
