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- W2074424521 abstract "症例は77歳男性である．56歳頃から左下肢の引きずりと，構音障害が出現した．症状は緩徐に進行し発症7年で杖歩行，10年で車いすが必要になった．62歳時当院初診，脊髄小脳変性症の診断にて，タルチレリンを開始した．今回，脳梗塞のため入院した．入院時神経学的所見として右不全片麻痺と小脳失調症状に加え左下肢のジストニアをみとめた．遺伝子検査をおこなったところspinocerebellar ataxia type 31 （SCA31）に特異性の高い，PLEKHG4遺伝子の1塩基置換（−16C>T）と，SCA31 locusにおいて挿入変異をみとめSCA31と診断した．ジストニアを呈するSCA31の既報告はなく，貴重な症例と考え報告する．" @default.
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- W2074424521 date "2014-01-01" @default.
- W2074424521 modified "2023-10-16" @default.
- W2074424521 title "A case of 77-year-old male with spinocerebellar ataxia type 31 with left dominant dystonia" @default.
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- W2074424521 doi "https://doi.org/10.5692/clinicalneurol.54.643" @default.
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