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目的对自2006年开始克雅病监测网络监测到的10例T188K突变的遗传型克雅病确诊病例进行了临床特征及家族信息的分析。方法应用基因测序的方法发现了不同克雅病病例PRNP基因T188K的突变,应用Western Blot方法对脑脊液中14-3-3蛋白进行检测,并根据世界卫生组织(WHO)推荐的克雅病诊断标准对报告病例进行了诊断,对其主要临床特征及家族信息进行了分析。结果自2006年克雅病监测网络开始监测,已有10例T188K突变的遗传型克雅病病例被确诊。这些病例的平均发病年龄为58.8岁(40～76岁),其首发症状是多种多样的,包括快速进行性痴呆、精神症状、小脑共济失调及走路不稳的症状等。主要的临床症状与散发型克雅病相似,快速进行性痴呆在所有病例中均出现。病例的平均病程为4.5个月。只有1个病例出现典型的周期性脑电图三相波。共有6例病例核磁共振成像(MRI)出现皮层及(或)尾状核异常高信号。脑脊液14-3-3蛋白在10个病例中的8例出现阳性。只有2例病例出现与疾病相关的家族史。结论这些资料说明T188K突变在中国的遗传型克雅病病例中具有相对较高的频率,同时这些病例与散发型克雅病有着比较相近的临床表现。
OBJECTIVE To analyze the clinical features and family information of 10 cases of genetic Creutzfeldt-Jakob disease diagnosed in 10 cases of T188K mutation detected by the Cretaceous Disease Surveillance Network since 2006. Methods The mutation of PRNP gene T188K in different Creutzfeldt-Jakob disease cases was detected by gene sequencing method. The 14-3-3 protein in cerebrospinal fluid was detected by Western Blot. According to the diagnostic criteria of the Creutzfeldt-Jakob disease recommended by the World Health Organization (WHO) The reported cases were diagnosed, and their main clinical characteristics and family information were analyzed. Results Since the Kokya Disease Surveillance Network began monitoring in 2006, 10 cases of genetic Creutzfeldt-Jakob disease with the T188K mutation have been diagnosed. The average age at onset of these cases is 58.8 years (40-76 years). The first symptom of these cases is varied, including rapid dementia, psychiatric symptoms, cerebellar ataxia and unsteady walking symptoms. The main clinical symptoms are similar to sporadic Creutzfeldt-Jakob disease, with rapid dementia occurring in all cases. The average duration of the case was 4.5 months. Only one case showed typical cyclical EEG three-phase wave. A total of six cases of MRI (MRI) showed abnormal cortex and / or caudate nucleus. Cerebrospinal fluid 14-3-3 protein appeared positive in 8 out of 10 cases. Only two cases showed a family history of the disease. Conclusions These data suggest that the T188K mutation has a relatively high frequency in Chinese heritability Creutzfeldt-Jakob disease and that these cases have similar clinical manifestations with sporadic Creutzfeldt-Jakob disease.