Koizumi Ryuichi, Ueda Naohisa, Mugita Atsushi, Kimura Katsuo, Kishida Hitaru, Tanaka Fumiaki
Department of Neurology, Yokohama City University Medical Center, Yokohama, Japan.
Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Front Neurol. 2021 Oct 7;12:751750. doi: 10.3389/fneur.2021.751750. eCollection 2021.
The diagnosis of presymptomatic Creutzfeldt-Jakob disease (CJD) is challenging. The levels of total tau protein, 14-3-3 protein, and protease-resistant isoform of prion protein (PrP) in the cerebrospinal fluid; periodic sharp wave complexes on electroencephalography; and diffusion-weighted imaging (DWI) of brain magnetic resonance imaging (MRI) have all been used to diagnose symptomatic CJD, but none of these markers have been established in the diagnosis of presymptomatic CJD. Here, we report a case of genetic CJD with the V180I mutation in which a small punctate cortical hyperintensity was detected on DWI 6 months before symptom onset and 9 months before diagnosis. Presymptomatic CJD is currently impossible to diagnose because of the lack of established early diagnostic markers. However, since MRI is increasingly used in daily clinical practice, the chance detection of such DWI abnormalities would have important implications in terms of providing a clue to examine a highly specific early diagnostic marker to be developed in the future for CJD. This will allow presymptomatic intervention by disease-modifying therapy in the near future.
症状前克雅氏病（CJD）的诊断具有挑战性。脑脊液中总tau蛋白、14-3-3蛋白和朊病毒蛋白（PrP）的蛋白酶抗性异构体水平；脑电图上的周期性锐波复合波；以及脑磁共振成像（MRI）的扩散加权成像（DWI）都已用于诊断症状性CJD，但这些标志物均未在症状前CJD的诊断中得到确立。在此，我们报告一例具有V180I突变的遗传性CJD病例，在症状出现前6个月和诊断前9个月的DWI上检测到小的点状皮质高信号。由于缺乏既定的早期诊断标志物，目前尚无法诊断症状前CJD。然而，鉴于MRI在日常临床实践中的使用越来越多，这种DWI异常的偶然发现对于为未来开发用于CJD的高度特异性早期诊断标志物提供线索具有重要意义。这将使在不久的将来通过疾病修饰疗法进行症状前干预成为可能。
