Takayanagi Mika, Suzuki Keisuke, Nakamura Toshiki, Hirata Koichi, Satoh Katsuya, Kitamoto Tetsuyuki
Department of Neurology, Dokkyo Medical University.
Department of Neurology, Rehabilitation Amakusa Hospital.
Rinsho Shinkeigaku. 2018 Nov 28;58(11):682-687. doi: 10.5692/clinicalneurol.cn-001206. Epub 2018 Oct 27.
A 57-year-old man developed rapidly progressive dementia and a gait disturbance over 4 months. The patient had a slowly progressive executive dysfunction and speech problems for 4 years and was previously monitored in our outpatient clinic following a diagnosis of frontotemporal dementia. Diffusion-weighted MRI revealed high signal intensities in the right caudate nucleus and the bilateral cortices. Cerebrospinal fluid analysis showed increased levels of the 14-3-3 and total tau proteins. Periodic synchronous discharge was not evident on an electroencephalogram. Prion protein gene analysis identified a glutamate-to-lysine substitution at codon 219 (E219K) in the presence of the E200K mutation, leading to a genetic diagnosis of genetic Creutzfeldt-Jakob disease (CJD). The E219K polymorphism found on the allele of the E200K mutation may have influenced the characteristic clinical course of our patient that differed from that of typical E200K genetic CJD.
一名57岁男性在4个月内出现快速进展性痴呆和步态障碍。该患者有4年的缓慢进展性执行功能障碍和言语问题，此前在诊断为额颞叶痴呆后在我们的门诊接受监测。弥散加权磁共振成像显示右侧尾状核和双侧皮质有高信号强度。脑脊液分析显示14-3-3蛋白和总tau蛋白水平升高。脑电图未发现周期性同步放电。朊蛋白基因分析在存在E200K突变的情况下，在密码子219处发现谷氨酸到赖氨酸的替换（E219K），从而确诊为遗传性克雅氏病（CJD）。在E200K突变等位基因上发现的E219K多态性可能影响了我们患者不同于典型E200K遗传性CJD的特征性临床病程。
