Clinical features of Creutzfeldt-Jakob disease with V180I mutation
Clinical features of Creutzfeldt-Jakob disease with V180I mutation
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DOI：
10.1212/01.wnl.0000106954.54011.80
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发表时间：
2004-02-10
期刊：
影响因子：
9.9
通讯作者：
Itoyama, Y
中科院分区：
文献类型：
--
作者：
Jin, K;Shiga, Y;Itoyama, Y
作者描述了具有180密码子致病点突变的克雅氏病（CJD）的临床特征。这些症状从未开始于视觉或小脑受累。与散发性CJD相比，患者的疾病进展较慢。脑电图未见周期性尖波复合波。MRI显示除枕叶内侧和小脑皮质外，大脑皮质内有明显的高信号区肿胀。这些特征性的MRI表现是准确的死前诊断的重要线索。
The authors describe the clinical features of Creutzfeldt-Jakob disease (CJD) with the causative point mutation at codon 180. The symptoms never started with visual or cerebellar involvement. The patients showed slower progression of the disease compared with sporadic CJD. They never showed periodic sharp and wave complexes in EEG. MRI demonstrated remarkable high-intensity areas with swelling in the cerebral cortex except for the medial occipital and cerebellar cortices. These characteristic MRI findings are an important clue for an accurate premortem diagnosis.