From 1998 a prospective surveillance study of Creutzfeldt-Jakob disease (CJD) has been initiated in Belgium. In addition to epidemiological data, information on cerebrospinal fluid biomarkers, prion protein gene and brain neuropathology was collected. From 1-1-1998 to 31-12-2004, 188 patients were referred to the surveillance system. In 85 patients a 'definite' diagnosis of sporadic CJD (sCJD) could be made, whereas 26 patients remained 'probable'. We further identified two unrelated patients with an E200K mutation, and two patients with a seven octapeptide repeat insertion in one family. In one patient a familial history was noted but genetic analysis was not performed. In 72 patients different final diagnoses were made, Alzheimer's disease being the most frequent (N = 20). The demographic parameters of the Belgian population were similar to those observed in the rest of Europe. We did notice a significantly increased age-specific incidence (> 6/10(6)/year) of sCJD patients between 70 and 90 years old in the period 2002-2004 compared to 1998-2001 and retrospectively obtained data (1990-1997, p < 0.01). We undertook a detailed clinical and biochemical analysis to investigate this increase but could not identify any reason other than an increased vigilance for the diagnosis. In conclusion, our study identified that in the past sCJD may have been underestimated in patients over age 70 although these patients are both clinically and neurobiochemically similar to the general sCJD phenotype.

译文

:从1998年开始,比利时开始进行克雅氏病(CJD)的前瞻性监测研究。除流行病学数据外,还收集了有关脑脊液生物标志物,病毒蛋白基因和脑神经病理学的信息。从1998年1月1日到2004年12月31日,有188名患者被转诊到监视系统。在85例患者中,可以对散发性CJD(sCJD)做出“确定”诊断,而26例患者仍然“可能”。我们进一步确定了一个家族中两名具有E200K突变的无关患者和两名具有7个八肽重复插入的患者。一名患者有家族史,但未进行遗传分析。在72位患者中,做出了不同的最终诊断,其中最常见的是阿尔茨海默氏病(N = 20)。比利时人口的人口统计学参数与欧洲其他地区相似。我们确实注意到,与1998-2001年相比,2002-2004年间70-90岁的sCJD患者的年龄特异性发病率显着增加(> 6/10(6)/年),并且回顾性地获得了数据(1990-1997年, p <0.01)。我们进行了详细的临床和生化分析,以调查这种增加,但除了提高对诊断的警惕性外,无法确定任何其他原因。总之,我们的研究发现,过去的sCJD在70岁以上的患者中可能被低估了,尽管这些患者在临床和神经生化方面均与一般sCJD表型相似。

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