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01-02-2021 | Cough | Brief Communication

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

Authors: Maria João Malaquias, Catarina Mendes Pinto, Ana Sardoeira, Jorge Oliveira, João Parente Freixo, Ana Aires Silva, Pedro Abreu, Cristina Rosado Coelho, Joana Damásio, Nuno Vila-Chã, Marina Magalhães

Published in: Neurological Sciences | Issue 2/2021

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.

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Title: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1
Authors: Maria João Malaquias
Catarina Mendes Pinto
Ana Sardoeira
Jorge Oliveira
João Parente Freixo
Ana Aires Silva
Pedro Abreu
Cristina Rosado Coelho
Joana Damásio
Nuno Vila-Chã
Marina Magalhães
Publication date: 01-02-2021
Publisher: Springer International Publishing
Keywords: Cough
Cough
Cough
Published in: Neurological Sciences / Issue 2/2021
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-020-04895-4

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

Abstract

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Abstract

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