Department of Neurology, School of Medicine, Kangwon National University, Hyoja 3-dong, Chuncheon, Kangwon-do 200-947, Republic of Korea.
J Clin Neurosci. 2013 Jan;20(1):180-2. doi: 10.1016/j.jocn.2012.01.044. Epub 2012 Sep 19.
The clinical features of familial Creutzfeldt-Jakob disease (fCJD) with a mutation at codon 180 (V180I) are less typical than those of patients with sporadic CJD. We describe a patient with pathologically confirmed CJD carrying the V180I mutation who had atypical cerebrospinal fluid and electroencephalography findings. Similar to other prion protein mutations, this report suggests that the V180I mutation is not the exclusive determinant of the phenotype.
具有 180 密码子突变（V180I）的家族性克雅氏病（fCJD）的临床特征不如散发性 CJD 患者典型。我们描述了一例经病理证实的携带 V180I 突变的 CJD 患者，其脑脊液和脑电图表现不典型。与其他朊病毒蛋白突变一样，本报告表明 V180I 突变并非表型的唯一决定因素。
