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—疾患概念の確立の経緯と臨床的多様性

著者： 吉田邦広¹²

所属機関： ¹JA長野厚生連鹿教湯三才山リハビリテーションセンター鹿教湯病院脳神経内科 ²信州大学医学部神経難病学講座

ページ範囲：P.1237 - P.1246

文献概要

CANVAS（cerebellar ataxia with neuropathy and vestibular areflexia syndrome）は小脳失調，感覚性ニューロ（ノ）パチー，両側前庭障害を3徴とする多系統障害型の運動失調症候群である。本症の原因として，RFC1内の(AAGGG)反復配列の伸長が同定されて以降，3徴以外の臨床的多様性が認識されるようになり，現在ではRFC1関連スペクトラム障害と捉えられている。

参考文献

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