Kovács Gábor Géza, Bakos Agnes, Mitrova Eva, Minárovits János, László Lajos, Majtényi Katalin
Országos Pszichiátriai es Neurológiai Intézet, Budapest.
Ideggyogy Sz. 2007 Nov 30;60(11-12):447-52.
Sporadic Creutzfeldt-Jakob disease is the most frequent human prion disease. Genetic forms are associated with mutations in the human prion protein gene (PRNP) and thought to comprise 5-15% of cases. Acquired forms include iatrogenic and variant Creutzfeldt-Jakob disease. The latter is associated with the bovine spongiform encephalopathy. We recently reported the high incidence of genetic Creutzfeldt-Jakob disease in Hungary.
In the present study we summarize the results of a widened investigation comprising Creutzfeldt-Jakob disease cases collected in the National Institute of Psychiatry and Neurology, Hungary in the last 12 years. We examined the disease forms and their geographical distribution.
Our study involved 155 patients. The four major results are as follows: 1. In Hungary we detected only sporadic and genetic forms of human prion disease, while iatrogenic and variant Creutzfeldt-Jakob disease were not observed. 2. The proportion of genetic prion disease (E200K mutation), similarly to Slovakia, is higher than reported worldwide. Our observations indicate that at least every third case is genetic Creutzfeldt-Jakob disease. The mean incidence of genetic Creutzfeldt-Jakob disease (0.42/million) is unusually high. Especially the year 2006 was striking when the incidence of genetic Creutzfeldt-Jakob disease was 1.4/million. 3. More than half of genetic Creutzfeldt-Jakob disease cases lack a positive family history. 4. Some counties and the eastern part of Hungary shows elevated incidence of human prion disease.
Differences in the geographical distribution may be related to migration and historical relationship with the Slovakian population. Based on the increased incidence of E200K mutation, genetic testing of the PRNP is recommended in all cases with atypical neuropsychiatric disorder or suspicion of prion disease.
散发性克雅氏病是最常见的人类朊病毒病。遗传形式与人类朊病毒蛋白基因（PRNP）突变有关，据认为占病例的5 - 15%。获得性形式包括医源性和变异型克雅氏病。后者与牛海绵状脑病有关。我们最近报告了匈牙利遗传型克雅氏病的高发病率。
在本研究中，我们总结了一项扩大调查的结果，该调查涵盖了匈牙利国家精神病学和神经病学研究所过去12年收集的克雅氏病病例。我们检查了疾病形式及其地理分布。
我们的研究涉及155名患者。四个主要结果如下：1. 在匈牙利，我们仅检测到人类朊病毒病的散发性和遗传形式，未观察到医源性和变异型克雅氏病。2. 与斯洛伐克一样，遗传朊病毒病（E200K突变）的比例高于全球报告的比例。我们的观察表明，至少每三例中就有一例是遗传型克雅氏病。遗传型克雅氏病的平均发病率（每百万人口0.42例）异常高。特别是2006年尤为突出，当年遗传型克雅氏病的发病率为每百万人口1.4例。3. 超过一半的遗传型克雅氏病病例缺乏阳性家族史。4. 匈牙利的一些县以及东部地区人类朊病毒病的发病率有所升高。
地理分布的差异可能与移民以及与斯洛伐克人口的历史关系有关。基于E200K突变发病率的增加，建议对所有患有非典型神经精神障碍或疑似朊病毒病的病例进行PRNP基因检测。
