Title |
Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein
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Published in |
Acta Neuropathologica Communications, November 2013
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DOI | 10.1186/2051-5960-1-74 |
Pubmed ID | |
Authors |
Atsushi Kobayashi, Yasushi Iwasaki, Hiroyuki Otsuka, Masahito Yamada, Mari Yoshida, Yuichi Matsuura, Shirou Mohri, Tetsuyuki Kitamoto |
Abstract |
Sporadic Creutzfeldt-Jakob disease is classified according to the genotype at polymorphic codon 129 (M or V) of the prion protein (PrP) gene and the type (1 or 2) of abnormal isoform of PrP (PrPSc) in the brain. The most complicated entity in the current classification system is MV2, since it shows wide phenotypic variations, i.e., MV2 cortical form (MV2C), MV2 with kuru plaques (MV2K), or a mixed form (MV2K + C). To resolve their complicated pathogenesis, we performed a comprehensive analysis of the three MV2 subgroups based on histopathological, molecular, and transmission properties. |
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