Neurological Surgery 脳神経外科50巻1号

2022年01月発行

特集 Precision Medicine—個別化医療を目指した遺伝子診断と新治療の知見 Ⅲ脳血管障害

脳海綿状血管奇形

著者： 本郷博貴¹ 寺西裕¹ 宮脇哲¹ 齊藤延人¹

所属機関： ¹東京大学医学部脳神経外科

ページ範囲：P.206 - P.215

Point
・関連遺伝子としてCCM1, CCM2, CCM3, PIK3CA, MAP3K3が同定されてきた．
・MEKK3-KLF2/4シグナル異常を中心とした発症メカニズムが報告されている．
・分子メカニズムに基づいた治療薬の候補（アトルバスタチン，プロプラノロールなど）で臨床試験が行われている．

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