Research progress on cerebellar ataxia, neuropathy, vestibular areflexia syndrome / 中华神经科杂志
Chinese Journal of Neurology
;
(12): 1034-1040, 2022.
Artículo
en Chino
| WPRIM
| ID: wpr-958000
ABSTRACT
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is an autosomal recessive hereditary disorder characterized by cerebellar ataxia, sensory neuropathy and bilateral vestibulopathy. Recently a biallelic intronic AAGGG repeat expansion in the replication factor C1 (RFC1) gene was identified as the cause of this disorder. Clinical studies of genetically-confirmed CANVAS in the past 2 years have significantly expanded the clinical phenotype of the disease and the concept of RFC1-related disease was proposed. The clinical manifestations, characteristic auxiliary examination, genetic changes of CANVAS were reviewed and the new diagnostic criteria to improve clinicians′ awareness of the disease was discussed in this paper.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Neurology
Año:
2022
Tipo del documento:
Artículo
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