Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS)
Por:
Palones, E, Curto, E, Plaza, V, Gonzalez-Quereda, L, Segarra-Casas, A, Querol, L, Bertoletti, F, Rodriguez, MJ, Gallano, P, Crespo-Lessmann, A
Publicada:
1 mar 2024
Ahead of Print:
1 nov 2023
Resumen:
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.
Filiaciones:
Palones, E:
Univ Autonoma Barcelona, Dept Med, Barcelona, Spain
Hosp Santa Creu i Sant Pau, Sant Pau Biomed Res Inst IIB SANT PAU, Dept Resp Med, Barcelona, Spain
Curto, E:
Univ Autonoma Barcelona, Dept Med, Barcelona, Spain
Hosp Santa Creu i Sant Pau, Sant Pau Biomed Res Inst IIB SANT PAU, Dept Resp Med, Barcelona, Spain
Plaza, V:
Univ Autonoma Barcelona, Dept Med, Barcelona, Spain
Hosp Santa Creu i Sant Pau, Sant Pau Biomed Res Inst IIB SANT PAU, Dept Resp Med, Barcelona, Spain
Gonzalez-Quereda, L:
Hosp Santa Creu i Sant Pau, Inst Biomed Res Sant Pau IIB SANT PAU, Genet Dept, Barcelona, Spain
Univ Autonoma Barcelona, Genet & Microbiol Dept, Barcelona, Spain
Segarra-Casas, A:
Hosp Santa Creu i Sant Pau, Inst Biomed Res Sant Pau IIB SANT PAU, Genet Dept, Barcelona, Spain
Univ Autonoma Barcelona, Genet & Microbiol Dept, Barcelona, Spain
Querol, L:
Hosp Santa Creu i Sant Pau, Dept Neurol, Neuromuscular Dis Unit, Barcelona, Spain
Bertoletti, F:
Hosp Santa Creu i Sant Pau, Sant Pau Biomed Res Inst IIB SANT PAU, Dept Resp Med, Barcelona, Spain
Rodriguez, MJ:
Hosp Santa Creu i Sant Pau, Inst Biomed Res Sant Pau IIB SANT PAU, Genet Dept, Barcelona, Spain
Gallano, P:
Hosp Santa Creu i Sant Pau, Inst Biomed Res Sant Pau IIB SANT PAU, Genet Dept, Barcelona, Spain
Univ Autonoma Barcelona, Genet & Microbiol Dept, Barcelona, Spain
Inst Salud Carlos III, Networked Biomed Res Ctr Rare Dis CIBERER, Madrid, Spain
Crespo-Lessmann, A:
Univ Autonoma Barcelona, Dept Med, Barcelona, Spain
Hosp Santa Creu i Sant Pau, Sant Pau Biomed Res Inst IIB SANT PAU, Dept Resp Med, Barcelona, Spain
Hosp Santa Creu i Sant Pau, Dept Digest Pathol, Barcelona, Spain
hybrid, Green Published, All Open Access; Hybrid Gold Open Access
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