Introduction: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a hereditary neurological disease that seems to have chronic cough (CC) as a prodrome many years before the development of this disease.

Objective: To find out the presence of CANVAS genetic mutations in patients under study for CC, regardless of the presence of neurological symptoms.

Methods: Descriptive cross-sectional study of patients under study for CC in a specialized pulmonology practice. All patients were non-smokers and underwent the pertinent studies for the diagnosis of CC according to the recommendations of the European Respiratory Society.  A blood sample was obtained for genetic analysis using two techniques: amplification by standard polymerase chain reaction (PCR) with flanking primers of the replication factor complex subunit 1 (RFC1) gene and amplification by repeated primed PCR in 3 independent reactions.

Results: This study included 21 patients, 14 were female (66.7%) and the mean age was 69.7 ± 10.3. The most frequent comorbidities were gastroesophageal reflux (61.9%) and rhinitis (47.6%). The genetic analysis showed a positive result for CANVAS with AAGGG biallelic expansion in RFC1 in 2 patients (11.8%), one of them without neurological symptoms and one with possible symptoms but not yet studied.

Conclusions: The detection of the AAGGG biallelic expansion in RFC1 in patients with CC is not negligible. Its detection may allow the diagnosis of a neurological disease before the onset of disabling symptoms and its use as screening could be considered in the routine clinical practice of these patients.