Data underlying the publication: Genetic Creutzfeldt-Jakob disease shows Fatal Family Insomnia phenotype

We report a case of genetic Creutzfeldt-Jakob disease (gCJD). The 51-year-old male complained of sleep disorder and imbalance who had visited five different hospitals before diagnosed. A neurological examination revealed a triad of symptoms characteristic for WKs such as gaze paresis, ataxia of limbs and trunk, and memory disturbances. The disturbances increased during the course of the disease, which led to the death of the patient 18 months after the appearance of the signs. Although the patient show negative in brain magnetic resonance imaging (MRI) and 14-3-3 protein of cerebrospinal fluid (CSF), he was finally diagnosed with gCJD disease by the human prion protein (PRNP) gene mutations.

本研究报告1例遗传性克雅氏病（genetic Creutzfeldt-Jakob disease，gCJD）病例。该患者为51岁男性，因睡眠障碍及平衡障碍就诊，此前曾辗转5家医院后方获得确诊。神经系统检查提示其存在WKs特征性症状三联征：凝视麻痹、肢体与躯干共济失调以及记忆障碍。病程中上述症状呈进行性加重，患者于首发症状出现18个月后死亡。尽管患者颅脑磁共振成像（magnetic resonance imaging，MRI）与脑脊液（cerebrospinal fluid，CSF）14-3-3蛋白检测结果均为阴性，但最终通过人类朊蛋白基因（human prion protein gene，PRNP）突变检测确诊为gCJD。