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

Nomura, Taichi; Iwata, Ikuko; Naganuma, Ryoji; Matsushima, Masaaki; Satoh, Katsuya; Kitamoto, Tetsuyuki; Yabe, Ichiro

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

Nomura, Taichi; Iwata, Ikuko; Naganuma, Ryoji et al.

Prion, 2020, 14(1), 226-231

Permalink : https://hdl.handle.net/2115/79588

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アクセス権	open access
URI	https://hdl.handle.net/2115/79588
タイトル	A patient with spastic paralysis finally diagnosed as V180I genetic Creutzfeldt-Jakob disease 9 years after onset
著者	Nomura, Taichi ; Iwata, Ikuko ; Naganuma, Ryoji ; Matsushima, Masaaki ; Satoh, Katsuya ; Kitamoto, Tetsuyuki ; Yabe, Ichiro
著者名 Nomura, Taichi
著者名 Iwata, Ikuko
著者名 Naganuma, Ryoji
著者名 Matsushima, Masaaki
e-Rad_Researcher 70398147 著者名 Satoh, Katsuya
e-Rad_Researcher 20192560 著者名 Kitamoto, Tetsuyuki
e-Rad_Researcher 60372273 著者名 Yabe, Ichiro
言語	英語
キーワード	Creutzfeldt-Jakob disease
	spastic paralysis
	V180i genetic Creutzfeldt-Jakob disease
	Gerstmann-Straussler-Scheinker disease
	cortical dysfunction
発行日	2020-01-01
出版者	Taylor & Francis
収録物名	Prion
巻(号)	14(1)
ページ	226-231
抄録	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.
資源タイプ	学術雑誌論文
出版タイプ	Version of Record
権利情報	Creative Commons Attribution 4.0 International
PISSN	1933-6896
関連情報 (isIdenticalTo)	出版社版DOI https://doi.org/10.1080/19336896.2020.1823179