Genetic Creutzfeldt-Jakob disease (gCJD) with a mutation in codon 180 of the prion protein gene (V180I gCJD) is the most common form of gCJD in Japan, but only a few cases have been reported in Europe and the United States. It is clinically characterized by occurring in the elderly and presenting as slowly progressive dementia, although it generally shows less cerebellar and pyramidal symptoms than sporadic CJD. Here, we report a patient with V180I gCJD who initially presented with slowly progressive spastic paralysis with neither cerebrospinal fluid (CSF) nor magnetic resonance imaging (MRI) abnormalities. His symptoms progressed gradually, and after 9 years, he displayed features more typical of CJD. Diffusion-weighted MRI revealed high-intensity signals in the cortical gyrus, and there was a marked increase of 14-3-3 protein and total tau protein in the CSF, but he was negative for the real-time quaking-induced conversion assay. Although the time course was more consistent with Gerstmann-Sträussler-Scheinker disease than CJD, genetic testing revealed V180I gCJD. This is the first report of a patient with V180I gCJD who initially presented with spastic paralysis, and also the first to reveal that it took 9 years from disease onset for cortical dysfunction to develop and for MRI and CSF abnormalities to be detectable. In conclusion, we should screen for V180I gCJD in elderly patients presenting with slowly progressive spastic paralysis.

朊病毒蛋白基因第 180 号密码子（V180I gCJD）发生突变的遗传性克雅氏病（gCJD）是日本最常见的 gCJD 形式，但在欧洲和美国仅报告了少数病例。它的临床特征是发生在老年人中并表现为缓慢进行性痴呆，尽管它通常比散发性克雅病表现出更少的小脑和锥体症状。在这里，我们报告了一名 V180I gCJD 患者，最初表现为缓慢进行性痉挛性麻痹，脑脊液 (CSF) 和磁共振成像 (MRI) 均未异常。他的症状逐渐进展，9年后，他表现出更典型的克雅氏病特征。弥散加权 MRI 显示皮质回有高强度信号，脑脊液中 14-3-3 蛋白和总 tau 蛋白显着增加，但实时震颤诱导转化检测结果呈阴性。尽管病程与 Gerstmann-Sträussler-Scheinker 病比克雅氏病更一致，但基因检测显示 V180I gCJD。这是第一份关于最初表现为痉挛性瘫痪的 V180I gCJD 患者的报告，也是第一份揭示从发病起 9 年才出现皮质功能障碍以及 MRI 和 CSF 异常可检测到的报告。总之，我们应该在出现缓慢进行性痉挛性麻痹的老年患者中筛查 V180I gCJD。