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Article

Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease.

Prion - 1 Dec 2020

Hayashi Yuichi, Iwasaki Yasushi, Waza Masahiro, Kato Shinei, Akagi Akio, Kimura Akio, Inuzuka Takashi, Satoh Katsuya, Kitamoto Tetsuyuki, Yoshida Mari, Shimohata Takayoshi

Abstract excerpt

The clinical characteristics of genetic Creutzfeldt-Jakob disease (gCJD) with a V180I mutation in the PRNP gene (V180I gCJD) are unique: elderly-onset, gradual progression, sporadic fashion, and cortical oedematous hyper-intensity on diffusion-weighted MRI (DW-MRI). This phenotype may become a potential target of future clinical therapeutic trials. The average disease duration of V180I gCJD patients is...

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Identifiers

PMID: 32178563
DOI: 10.1080/19336896.2020.1739603
PMCID: PMC7153845

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