CANVAS: una nueva etiología de la ataxia del adulto. La asociación con tos orienta al diagnóstico. Comunicación de 2 pacientes
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Fecha
2023-04
Profesor/a Guía
Facultad/escuela
Idioma
es
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Editor
Sociedad Medica de Santiago
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Licencia CC
Attribution 4.0 International Deed (CC BY 4.0)
Licencia CC
https://creativecommons.org/licenses/by/4.0/deed.en
Resumen
Presentamos dos pacientes no relacionados con ataxia cerebelosa de inicio tardío asociada con neuropatía y tos seca de larga data. Un paciente tenía dos hermanos afectados con neuropatía sensorial y tos. Ambos probandos tuvieron investigaciones extensas que incluyó pruebas genéticas negativas para las ataxias más comunes, así como pruebas paraneoplásicas y otras causas inmunológicas. Ambos pacientes mostraron una expansión intrónica anormal en el pentanucleótido AAGGG del gen RFC1.
Esta etiología se informa como causa frecuente de ataxia de inicio en adultos; la presencia de tos puede conducir al diagnóstico correcto.
We report two unrelated patients with late-onset cerebellar ataxia associated with neuropathy and a long-standing dry cough. One patient had two siblings affected with sensory neuropathy and cough. Both probands had extensive investigations including genetics testing negative for most common ataxias as well as testing for paraneoplasic and other immunologic causes. Both patients showed an abnormal intronic expansion in the pentanucleotide AAGGG of the gene RFC1. This etiology is being reported as frequent cause of adult-onset ataxia; the presence of cough may lead to the correct diagnosis. © 2023 Sociedad Medica de Santiago. All rights reserved. Key words: Ataxia; Neuronopathy; CANVAS; RFC1; Chronic Cough
We report two unrelated patients with late-onset cerebellar ataxia associated with neuropathy and a long-standing dry cough. One patient had two siblings affected with sensory neuropathy and cough. Both probands had extensive investigations including genetics testing negative for most common ataxias as well as testing for paraneoplasic and other immunologic causes. Both patients showed an abnormal intronic expansion in the pentanucleotide AAGGG of the gene RFC1. This etiology is being reported as frequent cause of adult-onset ataxia; the presence of cough may lead to the correct diagnosis. © 2023 Sociedad Medica de Santiago. All rights reserved. Key words: Ataxia; Neuronopathy; CANVAS; RFC1; Chronic Cough
Notas
Indexación: Scopus, Web Of Science, Scielo
Palabras clave
Ataxia, Neuronopatía, CANVAS, RFC1, Tos Crónica
Citación
Revista Medica de Chile. Volume 151, Issue 4, Pages 524 - 529. April 2023
DOI
10.4067/s0034-98872023000400524