BRAIN and NERVE－神経研究の進歩75巻7号

2023年07月発行

総説

組織学的アプローチからのALS診断バイオマーカー—筋病理と筋内神経束へのリン酸化TDP-43発現

著者： 倉重毅志¹

所属機関： ¹国立病院機構呉医療センター脳神経内科

ページ範囲：P.877 - P.887

文献概要

TDP-43（transacting response DNA-binding protein of 43kDa）の発見以来，血液や髄液などさまざまなバイオマーカーが報告されたが疾患特異性が不十分である。剖検症例・筋生検症例の骨格筋内に含まれる筋内神経束でのリン酸化TDP-43発現が筋萎縮性側索硬化症（amyotrophic lateral sclerosis：ALS）に特異的組織所見であることを報告した。現在のALS診断基準では診断できない初期から確認可能で，ALSの生検病理診断に有用な末梢組織病理所見である可能性を示している。ALSの診断特異的バイオマーカー確立と下位運動ニューロン障害への治療ターゲット解明を目指している。

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