BRAIN and NERVE－神経研究の進歩72巻9号

2020年09月発行

特集 皮質性小脳萎縮症へのアプローチ

遺伝性疾患の立場からのアプローチ

著者： 髙橋祐二¹

所属機関： ¹国立精神・神経医療研究センター・病院脳神経内科

ページ範囲：P.947 - P.959

文献概要

皮質性小脳萎縮症（CCA）の一部には遺伝性脊髄小脳変性症（hSCD）が混在しており，正確な診断のためには遺伝子検査が必要である。頻度の高いhSCD（トリプレットリピート病およびSCA31）のスクリーニングを行う。次世代シーケンサーを用いたパネル解析・全エクソーム解析も行われている。運動失調症の患者レジストリJ-CATがCCAの遺伝疫学解明に貢献している。今後は全ゲノム解析を含めた網羅的遺伝子解析によりCCAの解明を進めていく。

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