Suppr超能文献

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

机构信息

State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Prevention and Control, Chinese Center for Disease Control and Prevention, Beijing, China.

出版信息

BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.06.2009.2002. Epub 2009 Jul 20.

DOI:10.1136/bcr.06.2009.2002
PMID:21772923
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3029117/
Abstract

Familial transmissible spongiform encephalopathies comprise about 14% of all cases of transmissible spongiform encephalopathy in humans. We report on a patient with a definite diagnosis of familial Creutzfeldt-Jakob disease with an insertional mutation consisting of seven extra octapeptide repeats between codons 51 and 91 in the PRNP gene, associated with a genotype homozygotic for methionine at codon 129 and a novel coding change of the inserted octapeptide region.

摘要

相似文献

1
Creutzfeldt-Jakob disease in a Chinese patient with a novel seven extra-repeat insertion in PRNP.
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.06.2009.2002. Epub 2009 Jul 20.
2
Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene.
Brain Res Mol Brain Res. 1995 Dec 1;34(1):173-6. doi: 10.1016/0169-328x(95)00175-r.
3
Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.
Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10926-30. doi: 10.1073/pnas.88.23.10926.
4
Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation.
Neurology. 1996 Sep;47(3):727-33. doi: 10.1212/wnl.47.3.727.
5
Novel prion protein gene mutation in an octogenarian with Creutzfeldt-Jakob disease.
Arch Neurol. 2000 Jul;57(7):1058-63. doi: 10.1001/archneur.57.7.1058.
6
Creutzfeldt-Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene.
Neurology. 2000 Aug 8;55(3):405-10. doi: 10.1212/wnl.55.3.405.
7
Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five octapeptide repeat insertion and unusual cerebellar morphology.
J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1386-9. doi: 10.1136/jnnp.2008.169359.
8
PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.
BMC Med Genet. 2009 Dec 26;10:146. doi: 10.1186/1471-2350-10-146.
9
An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease.
Brain Res Mol Brain Res. 1990 Apr;7(3):273-6. doi: 10.1016/0169-328x(90)90038-f.
10
Creutzfeldt-Jakob disease.
Adv Exp Med Biol. 2012;724:76-90. doi: 10.1007/978-1-4614-0653-2_6.

本文引用的文献

1
Octapeptide repeat insertions in the prion protein gene and early onset dementia.
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.
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.
Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10926-30. doi: 10.1073/pnas.88.23.10926.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验