Three cases of Creutzfeldt-Jakob disease with prion protein gene codon180 mutation presenting with pathological laughing and crying
Three cases of Creutzfeldt-Jakob disease with prion protein gene codon180 mutation presenting with pathological laughing and crying
复制标题
DOI：
10.1016/j.jns.2012.05.023
复制
发表时间：
2012-08-15
影响因子：
4.4
通讯作者：
Iwasaki, Yasushi
中科院分区：
文献类型：
--
作者：
Iwasaki, Yasushi
虽然目前尚无克雅氏病(CJD)患者出现病理性哭笑的报道，但笔者经历了3例带有PrP基因密码子180突变(V180I)的CJD患者的临床表现。这一发现从所有3名患者的疾病早期就被观察到，并持续了几个月。惊恐反应在所有患者中也是显著的，尽管肌阵挛通常是轻微的。惊厥反应和肌阵挛之间的分离可能是V180I CJD的另一个特征。病理性大笑和哭闹与惊吓反应同时发生，并在静止性沉默发作前停止，在此期间两种症状的程度几乎平行。根据MRI和尸检结果，V180I CJD的特点是广泛累及大脑皮层，可能是导致病理性哭笑的原因。根据目前的观察结果，作者推测V180I CJD患者的病理性哭笑可能是比较常见的现象。(C)2012爱思唯尔B.V.保留所有权利。
Although there are no reports of pathological laughing and crying being observed in patients with Creutzfeldt-Jakob disease (CJD), the author experienced three patients with CJD with prion protein gene codon180 mutation (V180I CJD) who showed this characteristic clinical finding. This finding was observed from the early disease stage in all 3 patients and continued for several months. Startle reaction was also remarkable in all patients, although myoclonus was generally mild. The dissociation between the startle reaction and myoclonus was suspected to be another feature of V180I CJD. The pathological laughing and crying co-occured with the startle reaction and stopped right before the onset of akinetic mutism, and the degree of both symptoms was almost parallel during this period. On the basis of MRI and autopsy findings, pathological laughing and crying was suspected of being induced by the widespread cerebral cortical involvement that is characteristic of V180I CJD. From the present observations, the author speculated that pathological laughing and crying may be a comparatively frequent observation in V180I CJD patients. (C) 2012 Elsevier B.V. All rights reserved.