伴有M232R突变的家族性克雅氏病表现为皮质基底节综合征。 - Suppr

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超能文献

Familial Creutzfeldt-Jakob disease with M232R mutation presented with corticobasal syndrome.

作者信息

Lim Jung Geol, Oh Eungseok, Park Sangmin, Kim Yong-Sun, Lee Aeyoung

机构信息

Department of Neurology, Chungnam National University Hospital, Daejeon, Korea.

出版信息

Neurol Sci. 2015 Jul;36(7):1291-3. doi: 10.1007/s10072-014-2038-4. Epub 2014 Dec 17.

DOI:10.1007/s10072-014-2038-4

PMID:25515787

Abstract

摘要

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本文引用的文献

Prospective 10-year surveillance of human prion diseases in Japan.日本朊病毒病前瞻性 10 年监测。

Brain. 2010 Oct;133(10):3043-57. doi: 10.1093/brain/awq216. Epub 2010 Sep 20.

Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.密码子178、200 - 129和232处的突变导致了韩国患者的遗传性朊病毒疾病。

BMC Infect Dis. 2009 Aug 22;9:132. doi: 10.1186/1471-2334-9-132.

Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution.具有M232R替代的克雅氏病的两种不同临床表型。

J Neurol. 2007 Nov;254(11):1509-17. doi: 10.1007/s00415-007-0540-9. Epub 2007 Nov 2.

Mutation in the prion protein gene at codon 232 in Japanese patients with Creutzfeldt-Jakob disease: a clinicopathological, immunohistochemical and transmission study.日本克雅氏病患者朊蛋白基因第232密码子的突变：一项临床病理、免疫组织化学及传播研究。

Acta Neuropathol. 1996 Nov;92(5):441-6. doi: 10.1007/s004010050544.

Double mutations at codon 180 and codon 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease.

J Neurol Sci. 1993 Dec 15;120(2):208-12. doi: 10.1016/0022-510x(93)90275-4.

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