Feketeová Eva, Jarčušková Dominika, Janáková Alžbeta, Rozprávková Eva, Cifráková Zlatica, Farkašová-Inaccone Silvia, Rimárová Kvetoslava, Dorko Erik, Gdovinová Zuzana
Department of Neurology, Faculty of Medicine, Pavol Jozef Safarik University in Kosice and Louis Pasteur University Hospital, Kosice, Slovak Republic.
Department of Prion Diseases, Slovak Medical University in Bratislava, Bratislava, Slovak Republic.
Cent Eur J Public Health. 2018 Dec;26 Suppl:S37-S41. doi: 10.21101/cejph.a5277.
An extraordinary incidence of genetic Creutzfeldt-Jakob disease (gCJD) appearing in clusters in the Slovak Republic was described in the 1990's. The aim of the study was to analyse data of CJD cases obtained from surveillance in Eastern Slovakia (ES) (2004-2016), the region outside the described geographical clusters.
The database set in the project was the source for epidemiological and clinical analysis of CJD cases.
The incidence of CJD in ES (2004-2016) was 1.7/million person-years (95% CI 1-2.4); the incidence increase in the last five years (2012-2016) was comparable to the whole country. Twenty seven of 29 reported CJD cases were available for analysis (mean age 59 years, F/M 15/12). The proportion of gCJD (E200K mutation) cases remained dominant (78%), with 9 familiar cases originating in 4 families. Analysis of the clinical features revealed shorter duration of the symptomatic phase in sporadic CJD (sCJD) (3.4 months) versus gCJD (5.15 months). Cognitive/behavioural changes, insomnia, and sensory disturbance were more pronounced in the early symptoms of gCJD. Periodic EEG discharges were more frequent in sCJD (83%) than gCJD (56%), all 19 available MR findings were CJD specific and localisation of abnormalities varied amongst the CJD forms.
The surveillance of CJD in ES (2004-2016) showed an increased incidence of CJD in ES, reaching the incidence rate of the whole country, with a permanent proportion of 70% gCJD cases based on the E200K mutation. Clinical, electrophysiological and MR features of sCJD and gCJD cases were in conformity with already published data. Epidemiological analysis of CJD in ES shows increasing detection of CJD but also suggests that current routine surveillance systems for CJD may underestimate the true burden of disease, especially sporadic cases in Slovakia.
20世纪90年代曾报道斯洛伐克共和国出现了成群的遗传性克雅氏病（gCJD）异常发病情况。本研究旨在分析从斯洛伐克东部（ES）（2004 - 2016年）监测获得的克雅氏病病例数据，该地区不在所描述的地理集群范围内。
项目中设置的数据库是克雅氏病病例流行病学和临床分析的来源。
ES地区（2004 - 2016年）克雅氏病发病率为1.7/百万人年（95%置信区间1 - 2.4）；过去五年（2012 - 2016年）发病率的增长与全国水平相当。报告的29例克雅氏病病例中有27例可供分析（平均年龄59岁，女性/男性为15/12）。gCJD（E200K突变）病例所占比例仍然占主导（78%），有9例家族性病例来自4个家庭。临床特征分析显示，散发性克雅氏病（sCJD）症状期持续时间（3.4个月）短于gCJD（5.15个月）。认知/行为改变、失眠和感觉障碍在gCJD早期症状中更为明显。周期性脑电图放电在sCJD（83%）中比gCJD（56%）更频繁，所有19例可用的磁共振成像结果均为克雅氏病特异性表现，且异常定位在不同克雅氏病类型中有所不同。
ES地区（2004 - 2016年）克雅氏病监测显示该地区克雅氏病发病率上升，达到全国发病率水平，基于E200K突变的gCJD病例比例持续保持在70%。sCJD和gCJD病例的临床、电生理和磁共振成像特征与已发表的数据一致。ES地区克雅氏病的流行病学分析表明，克雅氏病的检测有所增加，但也表明当前克雅氏病常规监测系统可能低估了疾病的真实负担，尤其是斯洛伐克的散发性病例。
