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Creutzfeldt-Jakob disease in a Chinese patient with a novel seven extra-repeat insertion in PRNP.

作者信息

Wang X F, Guo Y J, Zhang B Y, Zhao W Q, Gao J M, Wan Y Z, Li F, Han J, Wang D X, Dong X P

出版信息

J Neurol Neurosurg Psychiatry. 2007 Feb;78(2):201-3. doi: 10.1136/jnnp.2006.09433.

DOI:10.1136/jnnp.2006.09433
PMID:17229753
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2077666/
Abstract
摘要

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Creutzfeldt-Jakob disease in a Chinese patient with a novel seven extra-repeat insertion in PRNP.一名中国患者患有克雅氏病，其朊蛋白基因（PRNP）存在一种新的七个额外重复序列插入突变。
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Polymorphism at codon 129 of PRNP affects the phenotypic expression of Creutzfeldt-Jakob disease linked to E200K mutation.朊蛋白基因（PRNP）第129密码子的多态性影响与E200K突变相关的克雅氏病的表型表达。
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A novel three extra-repeat insertion in the prion protein gene (PRNP) in a patient with Creutzfeldt-Jakob disease.一名克雅氏病患者的朊蛋白基因（PRNP）中出现一种新型的三个额外重复序列插入。
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Case Report: Genetic Creutzfeldt-Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia.病例报告：具有G114V突变和一个八肽重复序列缺失的遗传性克雅氏病，表现为额颞叶痴呆的模仿症。
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Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.遗传性朊病毒病：来自中国克雅氏病监测的特征和经验的见解。
Neurosci Bull. 2021 Nov;37(11):1570-1582. doi: 10.1007/s12264-021-00764-y. Epub 2021 Sep 6.
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Genetic PrP Prion Diseases.遗传性朊病毒病。
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Hereditary Human Prion Diseases: an Update.遗传性人类朊病毒病：最新进展。
Mol Neurobiol. 2017 Aug;54(6):4138-4149. doi: 10.1007/s12035-016-9918-y. Epub 2016 Jun 20.
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The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.基于中国监测项目的遗传性朊病毒病特征
PLoS One. 2015 Oct 21;10(10):e0139552. doi: 10.1371/journal.pone.0139552. eCollection 2015.
10
A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.一个荷兰家系中朊蛋白基因（PRNP）出现新型七肽重复插入，表现为格斯特曼-施特劳斯勒-谢因克病表型：与文献中的类似病例比较。
Acta Neuropathol. 2011 Jan;121(1):59-68. doi: 10.1007/s00401-010-0656-3. Epub 2010 Mar 3.

本文引用的文献

1
Octapeptide repeat insertions in the prion protein gene and early onset dementia.朊蛋白基因中的八肽重复序列插入与早发性痴呆
J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1166-70. doi: 10.1136/jnnp.2003.020198.
2
Novel prion protein insert mutation associated with prolonged neurodegenerative illness.与长期神经退行性疾病相关的新型朊病毒蛋白插入突变
Neurology. 2003 May 27;60(10):1620-4. doi: 10.1212/01.wnl.0000065887.14609.0e.
3
Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.与PRNP基因中五个、七个和八个额外八肽编码重复序列相关的可传播性家族性克雅氏病。
Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10926-30. doi: 10.1073/pnas.88.23.10926.