Delasnerie-Laupretre N, Alperovitch A
Institut National de la Santé et de la Recherche Médicale, U. 360, Villejuif, France.
Pathol Biol (Paris). 1995 Jan;43(1):22-4.
Creutzfeldt-Jakob disease is a rare disease (incidence < 1 case per million inhabitants), reported in all continents. Certain characteristics are constant from one country to another: mean age of onset: 65 years, duration of the disease: about 6 months, sex ratio close to 1 and approximately 10% of familial cases. The geographical sites of this disease identified in Chile, Israel and Czechoslovakia suggest certain genetic and/or environmental risk factors. The principal environmental factor implicated is scrapie in sheep, especially in these regions. Genetic studies have demonstrated the presence of apparently causal mutations of the PrP gene and a high risk of CJD associated with certain normal polymorphisms of this gene (codon 129). Certain grafts (dura mater, cornea) and treatment by extracted growth hormone are responsible for iatrogenic transmission. Multicentre epidemiological studies recruiting a large number of cases are needed to define the risk factors of this disease.
克雅氏病是一种罕见疾病（发病率<每百万居民1例），各大洲均有报告。从一个国家到另一个国家，某些特征是恒定的：平均发病年龄为65岁，疾病持续时间约为6个月，性别比接近1，约10%为家族性病例。在智利、以色列和捷克斯洛伐克发现的该疾病的地理区域表明存在某些遗传和/或环境风险因素。涉及的主要环境因素是绵羊瘙痒病，尤其是在这些地区。基因研究已证明存在朊蛋白（PrP）基因明显的致病突变，以及与该基因某些正常多态性（密码子129）相关的克雅氏病高风险。某些移植（硬脑膜、角膜）和提取的生长激素治疗会导致医源性传播。需要开展招募大量病例的多中心流行病学研究来确定该疾病的风险因素。
