| Title: |
Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS) |
| Authors: |
Palones, Esther; Curto Sánchez, Elena; Plaza, Vicente; González Quereda, Lidia; Segarra Casas, Alba; Querol, Luis; Bertoletti, Federico; Rodriguez, María José; Gallano, Pia; Crespo Lessmann, Astrid |
| Publication Year: |
2024 |
| Collection: |
Universitat Autònoma de Barcelona: Dipòsit Digital de Documents de la UAB |
| Subject Terms: |
Cerebellar ataxia; CANVAS; Gastroesophageal refux; RFC1; Chronic cough |
| Description: |
Altres ajuts: acords transformatius de la UAB; CIBERER (ACCI ER21P1AC705) ; Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is an hereditary autosomal recessive disease. Recent studies propose including chronic cough (CC) as a symptom of CANVAS. For 10 patients with CANVAS as genetically confirmed by biallelic expansion of the AAGG repeat motif (AAGGGexp) in intron 2 of replication factor C subunit 1 (RFC1), our aim was, as a multidisciplinary team, to describe clinical and functional characteristics and possible causes of CC following European Respiratory Society (ERS) recommendations, and to evaluate CC impact on quality of life (QoL) using self-administered questionnaires (Cough Severity Diary, Leicester Cough Questionnaire, Discrete Emotions Questionnaire, and EQ-5D-5L). In all 10 patients, the CC was a dry cough that developed several years prior to the neurological symptoms (mean 14.2 years); 7 patients had symptoms compatible with gastroesophageal reflux (GER), 5 with pathological GER diagnosed by 24-h esophageal pH testing, and 6 patients had impaired esophageal motility diagnosed by high-resolution esophageal manometry, most frequently ineffective peristalsis. Although further studies are required for confirmation, we conclude that CC may be a characteristic prodrome of CANVAS and may be related to GER and esophageal disorders. Furthermore, CC affects patients' QoL, especially in the psychosocial sphere. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| ISSN: |
14321459; 37917234 |
| Relation: |
Ministerio de Educación, Cultura y Deporte FPU20/06692; Journal of neurology; 2024; https://ddd.uab.cat/record/288601; urn:oai:ddd.uab.cat:288601; urn:articleid:14321459; urn:scopus_id:85175559917; urn:pmid:37917234; urn:pmcid:PMC10896788; urn:oai:pubmedcentral.nih.gov:10896788 |
| Availability: |
https://ddd.uab.cat/record/288601 |
| Rights: |
open access ; Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. ; https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.46FAF6F3 |
| Database: |
BASE |