Kobayashi S, Ohuchi T, Maki T
Department of Neurology, Kameda General Hospital.
Rinsho Shinkeigaku. 1997 Aug;37(8):671-4.
A case of probable Creutzfeldt-Jakob disease (CJD) is reported. A 70-year-old Japanese woman was admitted with a complaint of amnesia. She initially developed Klüver-Bucy syndrome, hypergraphia, and later showed myoclonus and startle response. She developed akinetic mutism within nine months from the onset. Prion protein gene codon 180 point mutation (Met/Ile) was detected and we diagnosed her as CJD. Serial MRI studies revealed abnormal T2 elongation and thickening limited to the cerebral cortices, which started at bilateral temporal lobes and later extended to frontal, parietal, and occipital lobes with relative sparing of hippocampi and central gyri. Serial EEG did not show periodic synchronous discharge (PSD). Three cases of CJD with a point mutation of codon 180 were reported in the past. There are several common features in the past cases and the present case, i.e. 1) negative familial history, 2) late onset, 3) T2 high intensity at cerebral cortices on MRI, and 4) negative PSD. These may be characteristic features of CJD with a point mutation of codon 180.
报告了一例疑似克雅氏病（CJD）的病例。一名70岁的日本女性因失忆症状入院。她最初出现了克吕弗-布西综合征、书写过多，后来出现肌阵挛和惊吓反应。发病九个月内发展为运动不能性缄默症。检测到朊蛋白基因密码子180点突变（Met/Ile），我们将她诊断为CJD。系列MRI研究显示，异常的T2延长和增厚仅限于大脑皮质，始于双侧颞叶，随后扩展至额叶、顶叶和枕叶，海马体和中央回相对未受影响。系列脑电图未显示周期性同步放电（PSD）。过去曾报告过三例密码子180点突变的CJD病例。过去的病例和本病例有几个共同特征，即1）家族史阴性，2）发病较晚，3）MRI显示大脑皮质T2高信号，4）PSD阴性。这些可能是密码子180点突变的CJD的特征性表现。
