Transmission experiments verify sporadic V2 prion in a patient with E200K mutation-Reference-Cited by-同舟云学术

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Transmission experiments verify sporadic V2 prion in a patient with E200K mutation

Published:2024-05-20 Issue:1 Volume:147 Page:
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Kishida Hitaru,Kobayashi Atsushi,Teruya Kenta,Doi Hiroshi,Ueda Naohisa,Tanaka Fumiaki,Kuroiwa Yoshiyuki,Parchi Piero,Mohri Shirou,Kitamoto Tetsuyuki

Funder

Ministry of Health, Labour and Welfare

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00401-024-02738-6.pdf

Reference8 articles.

1. Baiardi S, Rossi M, Mammana A, Appleby BS, Barria MA, Calì I et al (2021) Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification. Acta Neuropathol 142:707–728. https://doi.org/10.1007/s00401-021-02350-y

2. Hainfellner JA, Parchi P, Kitamoto T, Jarius C, Gambetti P, Budka H et al (1999) A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein. Ann Neurol 45:812–816

3. Kobayashi A, Iwasaki Y, Otsuka H, Yamada M, Yoshida M, Matsuura Y et al (2013) Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein. Acta Neuropathol Commun 1:74. https://doi.org/10.1186/2051-5960-1-74

4. Kovacs GG, Seguin J, Quadrio I, Höftberger R, Kapás I, Streichenberger N et al (2011) Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy. Acta Neuropathol 121:39–57. https://doi.org/10.1007/s00401-010-0713-y

5. Parchi P, Giese A, Capellari S, Brown P, Schulz-Schaeffer W, Windl O et al (1999) Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 46:224–233

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