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CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions.
Journal of Neurology ( IF 4.8 ) Pub Date : 2020-09-10 , DOI: 10.1007/s00415-020-10183-0
Natalia Dominik 1 , Valentina Galassi Deforie 1 , Andrea Cortese 1, 2 , Henry Houlden 1
Affiliation  

The ataxias are a group of disorders that manifest with balance, movement, speech and visual problems. They can arise due to dysfunction of the cerebellum, the vestibular system and/or the sensory neurons. Genetic defects are a common cause of chronic ataxia, particularly common are repeat expansions in this group of conditions. Co-occurrence of cerebellar ataxia with neuropathy and vestibular areflexia syndrome has been termed CANVAS. Although CANVAS is a rare syndrome, on discovery of biallelic expansions in the second intron of replication factor C subunit 1 (RFC1) gene, we and others have found the phenotype is broad and RFC1 expansions are a common cause of late-onset progressive ataxia.

We aim to provide a review and update on recent developments in CANVAS and populations, where the disorder has been reported. We have also optimised a protocol for RFC1 expansion screening which is described herein and expanded phenotype after analysing late-onset ataxia patients from around the world.



中文翻译:

CANVAS:由于双等位基因内含子 AAGGG 扩展导致的迟发性共济失调。

共济失调是一组表现为平衡、运动、言语和视觉问题的疾病。它们可能由于小脑、前庭系统和/或感觉神经元的功能障碍而出现。遗传缺陷是慢性共济失调的常见原因,特别常见的是在这组疾病中的重复扩张。小脑共济失调与神经病变和前庭反射障碍综合征的共同发生被称为 CANVAS。尽管 CANVAS 是一种罕见的综合征,但在发现复制因子 C 亚基 1 ( RFC1 ) 基因的第二个内含子中的双等位基因扩增后,我们和其他人发现其表型广泛,RFC1扩增是迟发性进行性共济失调的常见原因。

我们的目标是对 CANVAS 和已报告该疾病的人群的最新发展进行回顾和更新。我们还优化了用于RFC1扩展筛选的协议,在分析了来自世界各地的迟发性共济失调患者后,本文描述了该协议并扩展了表型。

更新日期:2020-09-10
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