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A patient with spastic paralysis finally diagnosed as V180I genetic Creutzfeldt-Jakob disease 9 years after onset

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Title: A patient with spastic paralysis finally diagnosed as V180I genetic Creutzfeldt-Jakob disease 9 years after onset
Authors: Nomura, Taichi Browse this author
Iwata, Ikuko Browse this author
Naganuma, Ryoji Browse this author
Matsushima, Masaaki Browse this author
Satoh, Katsuya Browse this author →KAKEN DB
Kitamoto, Tetsuyuki Browse this author →KAKEN DB
Yabe, Ichiro Browse this author →KAKEN DB
Keywords: Creutzfeldt-Jakob disease
spastic paralysis
V180i genetic Creutzfeldt-Jakob disease
Gerstmann-Straussler-Scheinker disease
cortical dysfunction
Issue Date: 1-Jan-2020
Publisher: Taylor & Francis
Journal Title: Prion
Volume: 14
Issue: 1
Start Page: 226
End Page: 231
Publisher DOI: 10.1080/19336896.2020.1823179
Abstract: Genetic Creutzfeldt-Jakob disease (gCJD) with a mutation in codon 180 of the prion protein gene (V180I gCJD) is the most common form of gCJD in Japan, but only a few cases have been reported in Europe and the United States. It is clinically characterized by occurring in the elderly and presenting as slowly progressive dementia, although it generally shows less cerebellar and pyramidal symptoms than sporadic CJD. Here, we report a patient with V180I gCJD who initially presented with slowly progressive spastic paralysis with neither cerebrospinal fluid (CSF) nor magnetic resonance imaging (MRI) abnormalities. His symptoms progressed gradually, and after 9 years, he displayed features more typical of CJD. Diffusion-weighted MRI revealed high-intensity signals in the cortical gyrus, and there was a marked increase of 14-3-3 protein and total tau protein in the CSF, but he was negative for the real-time quaking-induced conversion assay. Although the time course was more consistent with Gerstmann-Straussler-Scheinker disease than CJD, genetic testing revealed V180I gCJD. This is the first report of a patient with V180I gCJD who initially presented with spastic paralysis, and also the first to reveal that it took 9 years from disease onset for cortical dysfunction to develop and for MRI and CSF abnormalities to be detectable. In conclusion, we should screen for V180I gCJD in elderly patients presenting with slowly progressive spastic paralysis.
Rights: https://creativecommons.org/licenses/by/4.0/
Type: article
URI: http://hdl.handle.net/2115/79588
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

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