朊蛋白基因中的R208H-129VV单倍型：一例遗传性克雅氏病患者的表型及神经影像学表现 - Suppr

R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease.

作者信息

Vita Maria Gabriella, Gaudino Simona, Di Giuda Daniela, Sauchelli Donato, Alboini Paolo Emilio, Gangemi Emma, Bizzarro Alessandra, Scaricamazza Eugenia, Capellari Sabina, Parchi Piero, Masullo Carlo

机构信息

Dipartimento di Gerontologia, Neuroscienze ed Ortopedia, Istituto di Neurologia, Università Cattolica del Sacro Cuore, Policlinico A.Gemelli, Largo A. Gemelli 8, 00168, Rome, Italy.

出版信息

J Neurol. 2013 Oct;260(10):2650-2. doi: 10.1007/s00415-013-7078-9. Epub 2013 Aug 25.

DOI:10.1007/s00415-013-7078-9

PMID:23979103

Abstract

摘要

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R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease.朊蛋白基因中的R208H-129VV单倍型：一例遗传性克雅氏病患者的表型及神经影像学表现

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Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy.伴有R208H突变的遗传性克雅氏病，表现为进行性核上性麻痹。

Mov Disord. 2012 Apr;27(4):476-9. doi: 10.1002/mds.24002.

Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment.一名患有朊蛋白基因（PRNP）R208H突变及17-kDa朊蛋白片段的患者发生克雅氏病。

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Creutzfeldt-Jakob disease with homozygous M232R mutation: A case report.携带纯合子M232R突变的克雅氏病：一例报告。

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Diffusion tensor imaging in patients with Creutzfeldt-Jakob disease.克雅氏病患者的扩散张量成像

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Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect.撒丁岛的遗传性克雅氏病：与 PRNP R208H 突变相关的单一起源效应的病例系列研究

Neurogenetics. 2020 Oct;21(4):251-257. doi: 10.1007/s10048-020-00618-1. Epub 2020 May 26.

[Human prion diseases: the Hungarian experience].[人类朊病毒病：匈牙利的经验]

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本文引用的文献

Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy.伴有R208H突变的遗传性克雅氏病，表现为进行性核上性麻痹。

Mov Disord. 2012 Apr;27(4):476-9. doi: 10.1002/mds.24002.

The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation in PRNP.首例携带 PRNP 基因 R208H 突变的中国克雅氏病患者。

Prion. 2011 Jul-Sep;5(3):232-4. doi: 10.4161/pri.5.3.16796. Epub 2011 Jul 1.

Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques.具有R208H-129V单倍型和库鲁病斑块的家族性克雅氏病。

Arch Neurol. 2006 Mar;63(3):449-52. doi: 10.1001/archneur.63.3.449.

Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene.与朊蛋白基因R208H突变相关的克雅氏病

Neurology. 2005 Mar 8;64(5):905-7. doi: 10.1212/01.WNL.0000152837.82388.DE.

Acta Neuropathol. 2005 Apr;109(4):443-8. doi: 10.1007/s00401-004-0978-0. Epub 2005 Mar 1.

Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.家族性克雅氏病中朊蛋白基因第208密码子的突变。

Neurology. 1996 Nov;47(5):1305-12. doi: 10.1212/wnl.47.5.1305.

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R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease.

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