Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1

• Type: Article in International Scientific Journal
• Date: 2020

Authors

Malaquias, MJ (Author) Other; Pinto, CM (Author) Other; Sardoeira, A (Author) Other; Oliveira, J (Author) Other; Freixo, JP (Author) Other; Silva, AA (Author) Other; Pedro Abreu (Author) FMUP; Coelho, CR (Author) Other; Damasio, J (Author) Other; Vila Cha, N (Author) Other; Magalhaes, M (Author) Other

Journal

Title: Neurological Sciences

Vol. 42

Pages: 749-753

ISSN: 1590-1874

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 2 Citations

Scopus - 1 Citation

Other information

Authenticus ID: P-00T-1QM

DOI: 10.1007/s10072-020-04895-4

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Dissemination

No. of pages: 5