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

アミロイドアンギオパチー

著者： 浜口毅¹ 山田正仁¹

所属機関： ¹金沢大学大学院医学系研究科脳病態医学講座脳老化・神経病態学（神経内科）

ページ範囲：P.1275 - P.1283

文献概要

はじめに

　脳アミロイドアンギオパチー（cerebral amyloid angiopathy: CAA）は，脳血管へのアミロイド沈着症である。現在までに，脳血管に沈着するアミロイド蛋白としてアミロイドβ蛋白（Aβ），シスタチンC（シスタチンC関連アミロイド：ACys），プリオン蛋白（PrP）（PrP関連アミロイド：AScr），トランスサイレチン（TTR）（TTR関連アミロイド：ATTR），ゲルゾリン（ゲルゾリン関連アミロイド：AGel），ABri/ADanの6種類が知られており，それに基づく分類がなされている（Table1)^1）。

　軽度のCAAは臨床症状と直接は関連しないが，高度のCAAは脳血管障害（脳出血，白質脳症，脳血管性認知症など）の原因となる^1）。遺伝性のCAAに関しては後述するごとく遺伝子診断が可能であるが，最も多数を占める孤発性Aβ型CAAでは，遺伝子変異は通常検出されず^2），診断に有用なマーカーは確立していない。しかし，近年いくつかの遺伝的な危険因子の関与が報告されており，今後の診断および治療に有用となる可能性がある。

　本稿では，CAAに関して現在までに報告のある遺伝子多型や変異を，孤発性Aβ型CAAと遺伝性のCAAに分けて概説する。

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