[CANVAS and RFC1-related disease - a broad clinical spectrum from cough and neuropathy to cerebellar ataxia].

Authors

Kerstin Andrén, Martin Paucar, Håkan Thonberg

Published in

Lakartidningen. Volume 123. Jun 15, 2026. Epub Jun 15, 2026.

Abstract

CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome) is an autosomal recessive disorder caused by a pentanucleotide expansion in the RFC1 gene. It is likely the most common cause of autosomal recessive ataxia in Sweden. The genetic basis of the disease was identified in 2019. The condition is slowly progressive with onset in mid-adulthood, typically beginning with sensory neuropathy, followed by progressive postural imbalance due to sensory and cerebellar ataxia and vestibular areflexia. Chronic cough is a common feature and may precede the neurological symptoms by years or even decades. Other typical findings include oscillopsia, dysarthria and autonomic dysfunction. Milder forms exist, with isolated neuropathy with or without chronic cough. We present two cases: one with the full CANVAS syndrome, and one with neuropathy associated with RFC1-related disease.

PMID:
42290619
Bibliographic data and abstract were imported from PubMed on 15 Jun 2026.

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