Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1.
Neurol Sci
; 42(2): 749-753, 2021 Feb.
Article
em En
| MEDLINE
| ID: mdl-33188504
ABSTRACT
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a late-onset, multisystem ataxia that remained only clinically defined, until recently, when the discovery of biallelic repeat expansion in the RFC1 gene allowed the genetic link. We describe the first Portuguese familial CANVAS harboring the pathogenic RFC1 expansion. Detail clinical features and course of four affected members are provided. Phenotype characterizations are important as the novel RFC1 mutation is expected to be a major cause of idiopathic late-onset ataxia.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia Cerebelar
/
Tosse
Limite:
Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article