Cerebellar ataxia, neuropathy and vestibular areflexia syndrome: a neurogenic cough prototype
| Autor: | Laurent Guilleminault, Stuart B. Mazzone, Pauline Chazelas, Simon Frachet, Anne-Sophie Lia, Laurent Magy |
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| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | ERJ Open Research, Vol 10, Iss 4 (2024) |
| Druh dokumentu: | article |
| ISSN: | 2312-0541 23120541 |
| DOI: | 10.1183/23120541.00024-2024 |
| Popis: | Chronic cough is a frequent disorder that is defined by cough of more than 8 weeks duration. Despite extensive investigation, some patients exhibit no aetiology and others do not respond to specific treatments directed against apparent causes of cough. Such patients are identified as having unexplained or refractory chronic cough. Recently, a high proportion of patients with chronic cough in the context of cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) was highlighted. CANVAS is a rare neurological disorder with a biallelic variation in the replication factor C subunit 1 (RFC1) gene corresponding mostly to an intronic AAGGG repeat expansion. Chronic cough in patients with CANVAS shares similar characteristics with cough hypersensitivity syndrome. The high prevalence of chronic cough in CANVAS gives the opportunity to better understand the neurogenic mechanism of chronic cough. In this review, we will describe the characteristics and mechanisms of CANVAS. We will also address the potential mechanisms responsible for chronic cough in CANVAS. Finally, we will address chronic cough management in the context of CANVAS. |
| Databáze: | Directory of Open Access Journals |
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