2018年3月4日
Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease
Prion
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- 巻
- 12
- 号
- 2
- 開始ページ
- 147
- 終了ページ
- 149
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1080/19336896.2018.1436926
- 出版者・発行元
- Taylor and Francis Inc.
We report a Japanese patient with spinocerebellar ataxia type 31 (SCA31) and sporadic Creutzfeldt-Jakob disease (sCJD). A 52-year-old man developed progressive cognitive impairment after the appearance of cerebellar symptoms. Brain MR diffusion-weighted imaging (DWI) demonstrated a slowly expanding hyperintense lesion in the cerebral cortex. The patient was finally diagnosed as having both SCA31 and sCJD by identification of genetic mutations and by real-time quaking-induced conversion (RT-QUIC) analysis of the cerebrospinal fluid (CSF), respectively. Here, we report the clinical details of this rare combined case, with particular reference to the association between prion protein and the early onset of SCA31.
- リンク情報
- ID情報
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- DOI : 10.1080/19336896.2018.1436926
- ISSN : 1933-690X
- ISSN : 1933-6896
- ORCIDのPut Code : 51485719
- SCOPUS ID : 85048250780