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CANVAS, a sensory neuronopathy to look for in ataxia.
Méreaux, J-L; Grangeon, L; Bédat-Millet, A-L; Guyant-Maréchal, L.
Afiliação
  • Méreaux JL; Neurophysiology Department, Rouen University Hospital, Rouen, France. Electronic address: jeanloup.mereaux@gmail.com.
  • Grangeon L; Neurology Department, Rouen University Hospital, Rouen, France.
  • Bédat-Millet AL; Neurophysiology Department, Rouen University Hospital, Rouen, France; Neurology Department, Rouen University Hospital, Rouen, France.
  • Guyant-Maréchal L; Neurophysiology Department, Rouen University Hospital, Rouen, France; Medical Genetics Department, Rouen University Hospital, Rouen, France.
Rev Neurol (Paris) ; 179(8): 910-913, 2023 Oct.
Article em En | MEDLINE | ID: mdl-37301658
Sensory neuronopathies name the degeneration of peripheral sensory neurons in dorsal root ganglia. Among the genetic causes, CANVAS could be the most frequent. CANVAS is a clinical entity associating cerebellar ataxia, sensory neuronopathy and vestibular areflexia due to biallelic expansions in RFC1. This study reports the 18 individuals with sensory neuronopathy tested for RFC1 expansion in our center. The clinical picture showed that chronic cough was a frequent sign beginning before the onset of other symptoms. CANVAS is an underestimated cause of late-onset sensory and cerebellar ataxia that needs to be tested for widely now that the molecular cause is known.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Doenças do Sistema Nervoso Periférico Limite: Humans Idioma: En Revista: Rev Neurol (Paris) Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Doenças do Sistema Nervoso Periférico Limite: Humans Idioma: En Revista: Rev Neurol (Paris) Ano de publicação: 2023 Tipo de documento: Article