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Vol. 60. Issue 8.
Pages 468-474 (August 2024)
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Vol. 60. Issue 8.
Pages 468-474 (August 2024)
Original Article
Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1)
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Esther Palonesa,b,
Corresponding author
esther.palones@autonoma.cat

Corresponding author.
, Vicente Plazaa,b, Lidia Gonzalez-Queredac,d, Alba Segarra-Casasc,d, Luis Querole, Federico Bertolettif, María José Rodriguezd, Pía Gallanoc,d,g, Astrid Crespo-Lessmanna,b
a Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain
b Department of Respiratory Medicine, Institut de Recerca Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
c Genetics and Microbiology Department, Universitat Autònoma de Barcelona, Barcelona, Spain
d Genetics Department, Institut de Recerca Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
e Neuromuscular Disease Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
f Department of Digestive Pathology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
g Networked Biomedical Research Centre for Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
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Tables (4)
Table 1. Clinical and functional characteristics of patients with chronic cough (CC) without and with biallelic or monoallelic (AAGGG)exp in RFC1.
Table 2. Alleles identified in patients with chronic cough, refractory chronic cough, and unexplained chronic cough, and altered peripheral vibratory sensitivity results for the Rydel-Seiffer fork test.
Table 3. Chronic cough: etiological study results for complementary tests.
Table 4. Chronic cough impact on quality of life: questionnaire results.
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Figures (1)
Abstract
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 20000.

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.

Keywords:
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS)
Chronic cough (CC)
Refractory CC
Unexplained CC
Rydel-Seiffer fork

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