Your browser doesn't support javascript.
loading
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects.
Cortese, Andrea; Curro', Riccardo; Vegezzi, Elisa; Yau, Wai Yan; Houlden, Henry; Reilly, Mary M.
Afiliación
  • Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK andrea.cortese@ucl.ac.uk m.reilly@ucl.ac.uk.
  • Curro' R; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Vegezzi E; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Yau WY; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Houlden H; IRCCS Mondino Foundation, Pavia, Lombardia, Italy.
  • Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Pract Neurol ; 22(1): 14-18, 2022 Feb.
Article en En | MEDLINE | ID: mdl-34389644
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) typically presents in middle life with a combination of neuropathy, ataxia and vestibular disease, with patients reporting progressive imbalance, oscillopsia, sensory disturbance and a dry cough. Examination identifies a sensory neuropathy or neuronopathy and bilaterally impaired vestibulo-ocular reflex. The underlying genetic basis is of biallelic AAGGG expansions in the second intron of replication factor complex subunit 1 (RFC1). The frequency and phenotype spectrum of RFC1 disease is expanding, ranging from typical CANVAS to site-restricted variants affecting the sensory nerves, cerebellum and/or the vestibular system. Given the wide phenotype spectrum of RFC1, the differential diagnosis is broad. RFC1 disease due to biallelic AAGGG expansions is probably the most common cause of recessive ataxia. The key to suspecting the disease (and prompt genetic testing) is a thorough clinical examination assessing the three affected systems and noting the presence of chronic cough.
Asunto(s)
Palabras clave

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Vestibulares / Ataxia Cerebelosa / Enfermedades del Sistema Nervioso Periférico / Vestibulopatía Bilateral Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Pract Neurol Año: 2022 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Vestibulares / Ataxia Cerebelosa / Enfermedades del Sistema Nervioso Periférico / Vestibulopatía Bilateral Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Pract Neurol Año: 2022 Tipo del documento: Article