BRAIN and NERVE－神経研究の進歩69巻8号

2017年08月発行

特集 遺伝性脊髄小脳失調症の病態と治療展望

本邦における遺伝性脊髄小脳変性症の全体像

著者： 他田正義¹ 横関明男¹ 小野寺理¹

所属機関： ¹新潟大学脳研究所神経内科学分野

ページ範囲：P.879 - P.890

文献概要

遺伝性脊髄小脳変性症（SCD）は緩徐進行性の運動失調を主症状とする遺伝性神経変性疾患の総称である。優性遺伝性，劣性遺伝性，X染色体連鎖性に大別される。錐体路徴候，錐体外路徴候，末梢神経障害など小脳症候以外の多彩な神経症候を伴うものが多い。本邦では，マシャド・ジョセフ病，脊髄小脳失調症6型（SCA6），SCA31の頻度が高い。診断は遺伝子検査により確定される。遺伝性SCDに対する有効な病態抑止療法はいまだ確立されていない。

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