Article
Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Feb 2021
Malaquias Maria João, Mendes Pinto Catarina, Sardoeira Ana, Oliveira Jorge, Parente Freixo João, Aires Silva Ana, Abreu Pedro, Rosado Coelho Cristina, Damásio Joana, Vila-Chã Nuno, Magalhães Marina
Abstract excerpt
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...
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