| Title: |
Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS) : Screening for Mutations in Replication Factor C Subunit 1 (RFC1) |
| Authors: |
Plaza, Vicente; González Quereda, Lidia; Querol, Luis; Gallano, Pia; Palones, Esther; Segarra Casas, Alba; Bertoletti, Federico; Rodriguez, María José; Crespo Lessmann, Astrid; Universitat Autònoma de Barcelona. Departament de Medicina |
| Publication Year: |
2024 |
| Collection: |
Universitat Autònoma de Barcelona: Dipòsit Digital de Documents de la UAB |
| Subject Terms: |
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS); Chronic cough (CC); Refractory CC; Rydel-Seiffer fork; Unexplained CC |
| Description: |
Introduction: A common complaint in patients is chronic cough (CC), which may be refractory (RCC) or unexplained (UCC). Recent studies point, as a possible cause of CC, to the hereditary cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS), with an estimated carrier prevalence of 1 in 20 000. Aim: In patients with CC, determine the prevalence of the biallelic (AAGGG)exp mutation in replication factor C subunit 1 (RFC1) responsible for CANVAS, test the usefulness of the Rydel-Seiffer fork test, and evaluate patient quality of life (QoL). Methods: Clinical and functional data were collected for the 33 included patients undergoing CC studies in our specialized unit. Performed were an etiological study of CC following European Respiratory Society recommendations, a genetic study of RFC1 mutations, and Rydel-Seiffer fork testing to detect possible peripheral vibratory sensitivity impairment. Administered to evaluate QoL were 4 questionnaires. Results: Prevalence of biallelic (AAGGG)exp in RFC1 was 6.1% (n = 2) overall, increasing to 7.1% in the RCC subgroup, and to 33.3% in the Rydel-Seiffer fork altered results subgroup. Prevalence of monoallelic (AAGGG)exp in RFC1 was 18.2% (n = 6) overall, rising to 50.0% (n = 2) in the UCC subgroup. Conclusion: Genetic screening for (AAGGG)exp in RFC1, and also use of the Rydel-Seiffer fork test, should be considered in specialized CC consultations for patients with RCC and UCC. Detecting possible CANVAS symptoms in CC studies would identify candidates for early genetic screening, of interest in reducing the disease burden for patients and health systems alike. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| ISSN: |
15792129 |
| Relation: |
Archivos de bronconeumologia; Vol. 60, Num. 8 (August 2024), p. 468-474; https://ddd.uab.cat/record/323200; urn:10.1016/j.arbres.2024.04.028; urn:oai:ddd.uab.cat:323200; urn:scopus_id:85193039114; urn:pmid:38755058; urn:articleid:15792129v60n8p468 |
| Availability: |
https://ddd.uab.cat/record/323200 |
| Rights: |
open access ; Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades. ; https://creativecommons.org/licenses/by-nc-nd/4.0/ |
| Accession Number: |
edsbas.601922BC |
| Database: |
BASE |