Genetic Creutzfeldt-Jakob disease.
Genetic Creutzfeldt-Jakob disease.
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DOI：
10.1016/b978-0-444-63945-5.00013-1
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发表时间：
2018-01-01
影响因子：
--
通讯作者：
Kovacs, Gabor G
中科院分区：
文献类型：
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作者：
Ladogana, Anna;Kovacs, Gabor G
遗传性克雅氏病（CJD）与染色体20 p12-pter上的人类PrP基因（PRNP）突变有关。在所有CJD患者中，10-15%的患者已发现致病性突变，这些患者通常具有常染色体显性遗传和可变等位基因的家族史。然而，全世界监测网络实施的基因检测越来越多地意外地在明显呈现散发形式的CJD的人中识别出PRNP突变。据报道，遗传性朊病毒病具有较高的表型变异性，与散发性CJD的特征部分重叠。在这里，我们回顾了流行病学的最新进展，临床和神经病理学特征的情况下，表型类似CJD与点和插入突变的PRNP基因。仍需要多学科研究来了解PRNP突变的表型谱、突变率和意义。
Genetic Creutzfeldt-Jakob disease (CJD) is associated with mutations in the human PrP gene (PRNP) on chromosome 20p12-pter. Pathogenic mutations have been identified in 10-15% of all CJD patients, who often have a family history of autosomal-dominant pattern of inheritance and variable penetrance. However, the use of genetic tests implemented by surveillance networks all over the world increasingly identifies unexpectedly PRNP mutations in persons apparently presenting with a sporadic form of CJD. A high phenotypic variability was reported in genetic prion diseases, which partly overlap with the features of sporadic CJD. Here we review recent advances on the epidemiologic, clinical, and neuropathologic features of cases that phenotypically resemble CJD linked to point and insert mutations of the PRNP gene. Multidisciplinary studies are still required to understand the phenotypic spectrum, penetrance, and significance of PRNP mutations.