遗传型朊蛋白病的研究进展

遗传型朊蛋白病（IPD）是由于编码朊蛋白（PrP）的PRNP基因发生突变,导致PrP发生空间构象改变而引起的神经系统退行性病变。与散发型克雅氏病（sCJD）患者相比,IPD患者的临床表型存在较大异质性,发病年龄往往较早,病程也相对较长,常规辅助检查（核磁、脑电图、14-3-3蛋白）通常无明显改变,且大多缺乏家族病史,临床上容易误诊漏诊。本文就IPD的流行病学特征、病因及发病机制、PRNP突变类型与疾病表型的相关性、3种IPD的具体临床特征、神经组织病理特征、辅助检查特点及相关研究进展等方面进行综述。

Progress in research of inherited prion disease

Inherited prion disease (IPD) is a neurodegenerative disease caused by the mutation of PRNP gene encoding prion protein (PrP), which results in the change of spatial conformation of PrP. Compared to sporadic Creutzfeldt-Jakob diseases (sCJD), the clinical phenotype of patients with IPD is mostly heterogeneity. Moreover, patients with IPD often have earlier onset age. The duration of the disease is relatively longer. Regular auxiliary examination (MRI, EEG, protein 14-3-3) are usually negative. Because most of the IPD patients do not have family history, clinicians without adequate knowledge of the IPD can misdiagnose easily. This paper reviews the epidemiological characteristics, etiology and pathogenesis of IPD and the correlation of PRNP mutation and disease phenotype of IPD. It also includes the specific clinical characteristics, the nervous tissue pathologies and the auxiliary examination characteristics of the three types of IPD, as well as their related research progress.