BRAIN and NERVE－神経研究の進歩60巻11号

2008年11月発行

特集 脳卒中と遺伝子

もやもや病の遺伝要因の探索の現状

著者： 箸方宏州¹² 劉万洋¹ 峰晴陽平² 井上佳代子¹ 竹中勝信³ 池田秀敏⁴ 寶金清博⁵ 黒田敏⁶ 菊池顕次⁷ 木村充⁸ 瀧琢有⁹ 園部眞¹⁰ 伴貞彦¹¹ 野垣秀和¹² 半田明¹³ 菊田健一郎² 高木康志² 野崎和彦¹⁴ 橋本信夫¹⁵ 小泉昭夫¹

所属機関： ¹京都大学大学院医学研究科環境衛生学分野 ²京都大学大学院脳神経外科学 ³高山赤十字病院 ⁴脳神経疾患研究所／総合南東北病院 ⁵札幌医科大学医学部脳神経外科 ⁶北海道大学大学院医学研究科脳神経外科 ⁷由利組合総合病院 ⁸西脇市立西脇病院 ⁹関西労災病院 ¹⁰水戸医療センター ¹¹神戸市中央区保健福祉部 ¹²豊岡病院 ¹³岡山労災病院 ¹⁴滋賀医科大学脳神経外科学 ¹⁵国立循環器病センター

ページ範囲：P.1261 - P.1269

文献概要

はじめに

　もやもや病は，両側の内頸動脈終末部の狭窄もしくは閉塞および，いわゆる「もやもや血管」と呼ばれる閉塞部近傍の異常血管網の形成を認める，慢性進行性の疾患である^1，2）。

　1997年の報告によれば，罹患率0.35人/10万人年，有病率3.16人/10万人といわれていたが^3），2007年Babaらは北海道で悉皆疫学調査を行い，罹患率0.94人/10万人年，有病率10.5人/10万人と報告している^4）。また2008年Kuriyamaらは，罹患率は0.54人/10万人年，有病率10.5人/10万人と報告している^5）。このほかIkedaらの報告^6）など，もやもや病の罹患率および有病率は，核磁気共鳴装置の普及により増加している^7，8）。

　家族内で発症のみられる，いわゆる家族性もやもや病の割合は10％以上であり，東アジア人に多くの患者が認められていること^9），一卵性双生児がともに発症する確率が80％と高いこと^10）など，遺伝背景が強いと示唆される^11，12）。しかし，同時に浸透率が低く，一卵性双生児でも完全に罹患状態は一致しないことから，環境要因の関与も無視できない。本報告では，2000年以前の総説^13，14）以降を中心に，2008年の段階における遺伝子研究の経過および現状を，筆者らの検討も含め報告する。

参考文献

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