Chronic Cough as a Genetic Neurological Disorder? Insights from Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS).

IF 4.6 2区 医学 Q1 RESPIRATORY SYSTEM
Lung Pub Date : 2023-12-01 Epub Date: 2023-11-18 DOI:10.1007/s00408-023-00660-4
Richard D Turner, Barnaby Hirons, Andrea Cortese, Surinder S Birring
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Abstract

Chronic cough is common, and in many cases unexplained or refractory to otherwise effective treatment of associated medical conditions. Cough hypersensitivity has developed as a paradigm that helps to explain clinical and research observations that frequently point towards chronic cough as a neuropathic disorder. Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recently described neurological condition whose clinical features include gait ataxia, unsteadiness, peripheral neuropathy, and autonomic dysfunction. Chronic cough is also a common feature of the syndrome, with features of hypersensitivity, often preceding core neurological symptoms by up to 30 years or more. The genetic basis in a majority of cases of CANVAS appears to be biallelic variable repeat intron expansion sequences within RFC1, a gene normally involved in the regulation of DNA replication and repair. The same polymorphism has now been identified at an increased frequency in patients with unexplained or refractory chronic cough in the absence of defining clinical features of CANVAS. This review expands on these points, aiming to increase the awareness of CANVAS amongst clinicians and researchers working with chronic cough. We discuss the implications of a link between RFC1 disease and cough. Improved understanding of CANVAS may lead to an enhanced grasp of the pathophysiology of chronic cough, and new approaches to antitussive treatments.

Abstract Image

慢性咳嗽是遗传性神经系统疾病吗?小脑共济失调伴神经病变和前庭反射综合征(CANVAS)的观察。
慢性咳嗽是常见的,在许多情况下无法解释或难治性的,否则有效的治疗相关的医疗条件。咳嗽过敏已经发展成为一种范式,有助于解释临床和研究观察经常指出慢性咳嗽是一种神经性疾病。小脑性共济失调伴神经病变和前庭反射综合征(CANVAS)是最近发现的一种神经系统疾病,其临床特征包括步态共济失调、不稳定、周围神经病变和自主神经功能障碍。慢性咳嗽也是该综合征的一个共同特征,伴有过敏特征,通常比核心神经系统症状早30年或更长时间。大多数CANVAS病例的遗传基础似乎是RFC1内的双等位可变重复内含子扩增序列,RFC1通常参与DNA复制和修复的调节。在没有明确的CANVAS临床特征的情况下,在不明原因或难治性慢性咳嗽患者中发现了相同的多态性。这篇综述扩展了这些观点,旨在提高慢性咳嗽临床医生和研究人员对CANVAS的认识。我们讨论了RFC1疾病与咳嗽之间联系的含义。提高对CANVAS的了解可能会导致对慢性咳嗽病理生理学的掌握,并为止咳治疗提供新的途径。
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来源期刊
Lung
Lung 医学-呼吸系统
CiteScore
9.10
自引率
10.00%
发文量
95
审稿时长
6-12 weeks
期刊介绍: Lung publishes original articles, reviews and editorials on all aspects of the healthy and diseased lungs, of the airways, and of breathing. Epidemiological, clinical, pathophysiological, biochemical, and pharmacological studies fall within the scope of the journal. Case reports, short communications and technical notes can be accepted if they are of particular interest.
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