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BRAIN and NERVE Volume 74, Issue 11 （November 2022）

BRAIN and NERVE 74巻11号（2022年11月発行）

Japanese English

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 RFC1 CANVAS/Spectrum Disorder: Historical Details and Clinical Diversity 吉田邦広 ^1,2 Kunihiro Yoshida ^1,2 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 ¹Department of Neurology, Kakeyu-Misayama Rehabilitation Center, Kakeyu Hospital ²Department of Brain Disease Research, Shinshu University School of Medicine キーワード：小脳失調 , 感覚性ニューロパチー , 両側前庭機能障害 , 慢性咳嗽 , 前方視野を加えた前庭眼反射 , 感覚神経活動電位 , cerebellar ataxia , sensory neuropathy , bilateral vestibulopathy , chronic spasmodic cough , visually enhanced vestibulo-ocular reflex , VOR , sensory nerve action potential Keyword: 小脳失調 , 感覚性ニューロパチー , 両側前庭機能障害 , 慢性咳嗽 , 前方視野を加えた前庭眼反射 , 感覚神経活動電位 , cerebellar ataxia , sensory neuropathy , bilateral vestibulopathy , chronic spasmodic cough , visually enhanced vestibulo-ocular reflex , VOR , sensory nerve action potential pp.1237-1246

発行日 2022年11月1日 Published Date 2022/11/1

DOI https://doi.org/10.11477/mf.1416202222

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Abstract 文献概要
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参考文献 Reference

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。

Abstract

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) refers to a multi-system neurodegenerative disorder, with middle-age onset, which mainly presents with progressive imbalance. Imbalance is attributable to isolated or combined impairment of the cerebellar, proprioceptive, and vestibular systems. Chronic spasmodic cough, which usually precedes neurological symptoms, serves as a useful diagnostic clue to CANVAS. Diagnostic criteria have been proposed for CANVAS in 2016, based on 3 cardinal features. In 2019, a biallelic intronic AAGGG repeat expansion (AAGGG)_exp in the replication factor complex subunit 1 gene (RFC1) was identified as a genetic contributor to CANVAS, and (ACGGG)_exp in RFC1 was subsequently confirmed as a causative factor for CANVAS. Genetic screening for RFC1 has shown that CANVAS is an overlooked entity in patients with cerebellar ataxia or sensory neuropathy, which highlights more restricted phenotypes that exclusively involve one of the aforementioned systems. The phenotypic spectrum of RFC1-related disorders has been expanding since the discovery of (AAGGG)_exp or (ACGGG)_exp in the RFC1. Studies have reported atypical features, including parkinsonism, motor neuron involvement, cognitive decline, and sleep disorders. Currently, a wide variety of clinical conditions associated with biallelic intronic pentanucleotide repeat expansion in RFC1 are classified as RFC1 CANVAS/spectrum disorder.