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Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene
http://hdl.handle.net/10069/34527
http://hdl.handle.net/10069/345275ac00e91-5ab4-4a23-b3dd-f89e6a90aa0f
名前 / ファイル | ライセンス | アクション |
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BMJOpen4_004968.pdf (668.3 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2014-07-04 | |||||
タイトル | ||||||
タイトル | Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Qina, Temu
× Qina, Temu× Sanjo, Nobuo× Hizume, Masaki× Higuma, Maya× Tomita, Makoto× Atarashi, Ryuichiro× Satoh, Katsuya× Nozaki, Ichiro× Hamaguchi, Tsuyoshi× Nakamura, Yosikazu× Kobayashi, Atsushi× Kitamoto, Tetsuyuki× Murayama, Shigeo× Murai, Hiroyuki× Yamada, Masahito× Mizusawa, Hidehiro |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Objectives: Genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings. However, few systematic observations about the clinical features in patients with this unique mutation have been published. Therefore, the goal of this study was to relate this mutation to other forms of CJD from a clinical perspective. Design: We analysed clinical symptoms, prion protein genetics, biomarkers in cerebrospinal fluid (CSF) and MRI of patients. Participants: 186 Japanese patients with the V180I mutation in PRNP. Results: Our results indicate that the V180I mutation caused CJD at an older age, with a slower progression and a lower possibility of developing myoclonus, cerebellar, pyramidal signs and visual disturbance compared with classical sporadic CJD with methionine homozygosity at codon 129 of PRNP. Cognitive impairment was the major symptom. Diffuse hyperintensity of the cerebral cortex in diffusion-weighted MRI might be helpful for diagnosis. Owing to the low positivity of PrPSc in the CSF, genetic analysis was often required for a differential diagnosis from slowly progressive dementia. Conclusions: We conclude that the V180I mutation in PRNP produces a late-developing and slow-developing, less severe form of CJD, whose lesions are uniquely distributed compared with sporadic and other genetic forms of CJD. | |||||
書誌情報 |
BMJ Open 巻 4, 号 5, p. e004968, 発行日 2014-05-16 |
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出版者 | ||||||
出版者 | BMJ Publishing Group | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 20446055 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1136/bmjopen-2014-004968 | |||||
権利 | ||||||
権利情報 | This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 3.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/3.0/ | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | BMJ Open, 4(5), e004968; 2014 |