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A novel three extra-repeat insertion in the prion protein gene (PRNP) in a patient with Creutzfeldt-Jakob disease.

作者信息

Grasbon-Frodl E, Schmalzbauer R, Weber P, Krebs B, Windl O, Zerr I, Kretzschmar H A

出版信息

Neurogenetics. 2004 Dec;5(4):249-50. doi: 10.1007/s10048-004-0196-x.

DOI:10.1007/s10048-004-0196-x
PMID:15480878
Abstract
摘要

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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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A case of sporadic Creutzfeldt-Jakob disease with a Gerstmann-Sträussler-Scheinker phenotype but no alterations in the PRNP gene.一例具有格斯特曼-施特劳斯勒-谢克尔表型但PRNP基因无改变的散发性克雅氏病病例。
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Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease.一名患有克雅氏病的北非患者朊蛋白基因第210密码子（V210I）处的突变
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Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia.具有PRNP基因D178N-129M突变的家族性克雅氏病，表现为小脑性共济失调且无失眠症状。
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Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.在具有克雅氏病表型的遗传性朊病毒病中朊病毒蛋白基因（PRNP）三个新突变（E196K、V203I、E211Q）的鉴定。
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本文引用的文献

1
Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation.
Eur J Hum Genet. 2004 Oct;12(10):867-70. doi: 10.1038/sj.ejhg.5201245.
2
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.
3
Effects of different experimental conditions on the PrPSc core generated by protease digestion: implications for strain typing and molecular classification of CJD.不同实验条件对蛋白酶消化产生的PrPSc核心的影响：对克雅氏病毒株分型和分子分类的意义
遗传性朊病毒病。
Cold Spring Harb Perspect Biol. 2018 May 1;10(5):a033134. doi: 10.1101/cshperspect.a033134.
4
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.遗传性朊病毒病：美国一家快速进展性痴呆中心的经验及文献综述
Am J Med Genet B Neuropsychiatr Genet. 2017 Jan;174(1):36-69. doi: 10.1002/ajmg.b.32505.
5
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.
6
An overview of human prion diseases.人类朊病毒病概述。
Virol J. 2011 Dec 24;8:559. doi: 10.1186/1743-422X-8-559.
7
Early onset prion disease from octarepeat expansion correlates with copper binding properties.由八肽重复序列扩增导致的早发性朊病毒病与铜结合特性相关。
PLoS Pathog. 2009 Apr;5(4):e1000390. doi: 10.1371/journal.ppat.1000390. Epub 2009 Apr 17.
8
Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population.韩国人群中散发性克雅氏病与PRNP密码子129和219处纯合基因型的关联。
Neurogenetics. 2005 Dec;6(4):229-32. doi: 10.1007/s10048-005-0016-y. Epub 2005 Oct 11.
J Biol Chem. 2004 Apr 16;279(16):16797-804. doi: 10.1074/jbc.M313220200. Epub 2004 Jan 29.
4
Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene.克雅氏病伴PRNP基因中一种新型的额外重复插入突变
Neurology. 2003 Nov 11;61(9):1288-91. doi: 10.1212/01.wnl.0000092017.74772.ca.
5
Creutzfeldt-Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene.克雅氏病伴朊蛋白基因一种新的四重复插入突变
Neurology. 2000 Aug 8;55(3):405-10. doi: 10.1212/wnl.55.3.405.
6
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.