Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1).
Esther PalonesVicente PlazaLidia Gonzalez-QueredaAlba Segarra-CasasLuis QuerolFederico BertolettiMaría José RodriguezPía GallanoAstrid Crespo-LessmannPublished in: Archivos de bronconeumologia (2024)
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.