BRAIN and NERVE－神経研究の進歩74巻11号

2022年11月発行

特集 RFC1遺伝子関連スペクトラム障害

RFC1遺伝子関連スペクトラム障害と小脳性運動失調

著者： 安藤匡宏¹ 髙嶋博¹

所属機関： ¹鹿児島大学大学院医歯学総合研究科脳神経内科・老年病学

ページ範囲：P.1273 - P.1279

文献概要

RFC1遺伝子関連スペクトラム障害は小脳性運動失調や感覚ニューロパチー，前庭神経障害を含めた多彩な障害が単独ないし多様な組合せをもって出現し得る疾患である。臨床症状や画像所見から多系統萎縮症との鑑別にも重要な疾患となる。本論では小脳性運動失調症におけるRFC1遺伝子関連スペクトラム障害の頻度や遺伝学的特徴，画像所見について詳述する。

参考文献

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