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RFC1 Spectrum Disorder in a Norwegian CANVAS Cohort.

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Title: RFC1 Spectrum Disorder in a Norwegian CANVAS Cohort.
Authors: Prestsæter, Sjur (AUTHOR), Koht, Jeanette (AUTHOR), Berland, Siren (AUTHOR), Høyer, Helle (AUTHOR), Selmer, Kaja Kristine (AUTHOR), Vedeler, Christian Alexander (AUTHOR), Wedding, Iselin (AUTHOR), Varhaug, Kristin Nielsen (AUTHOR), Carlsen, Trude Morken (AUTHOR), Knappskog, Per (AUTHOR), Rydning, Siri Lynne (AUTHOR), Saleem, Suraiya (AUTHOR)
Source: Acta Neurologica Scandinavica. 5/29/2026, Vol. 2026, p1-7. 7p.
Subjects: Cerebellar ataxia, Genetic profile, Phenotypes, Disease progression, Neurodegeneration, Vestibulo-ocular reflex, Neuropathy, Genes
Abstract: Background: Late‐onset cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive neurodegenerative disorder defined by sensory neuropathy, cerebellar ataxia, and bilateral vestibulopathy. While each symptom impairs balance, their combination causes substantial disability. The most common cause is a biallelic intronic repeat expansion in RFC1, now recognized as a frequent etiology of late‐onset cerebellar ataxia. Objective: The objective of this study is to describe the phenotype, clinical course, and genetic profile of a Norwegian cohort with genetically confirmed CANVAS. Methods: Patients with late‐onset progressive ataxia, without a prior molecular diagnosis, and with at least one additional CANVAS‐associated feature were screened for the RFC1 (AAGGG) repeat expansions. Individuals with confirmed biallelic expansions underwent detailed clinical evaluation. Results: Among the 162 patients tested, 44 (27%) carried biallelic RFC1 expansions. Thirty‐two were clinically assessed, and one additional patient with compound heterozygosity (expansion plus truncating variant) was included. All but one (32/33) exhibited the characteristic triad. Mean age at symptom onset was 50.3 years (range 40–70). All demonstrated additional features beyond the triad, most commonly chronic cough (97%), bulbar dysfunction (85%), and dysautonomia (70%). Limb dystonia, not previously associated with RFC1‐related disease, occurred in two patients (6%). Aspiration pneumonia was the predominant cause of death (7/9, 80%). Conclusion: Our results shed light on the clinical course of CANVAS and expand its phenotypic spectrum. They underscore frequent bulbar dysfunction, dysautonomia, and the risk of aspiration pneumonia, while identifying limb dystonia as a novel manifestation of RFC1‐related disease. [ABSTRACT FROM AUTHOR]
Copyright of Acta Neurologica Scandinavica is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: RFC1 Spectrum Disorder in a Norwegian CANVAS Cohort.
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  Data: <searchLink fieldCode="AR" term="%22Prestsæter%2C+Sjur%22">Prestsæter, Sjur</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Koht%2C+Jeanette%22">Koht, Jeanette</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Berland%2C+Siren%22">Berland, Siren</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Høyer%2C+Helle%22">Høyer, Helle</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Selmer%2C+Kaja+Kristine%22">Selmer, Kaja Kristine</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Vedeler%2C+Christian+Alexander%22">Vedeler, Christian Alexander</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wedding%2C+Iselin%22">Wedding, Iselin</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Varhaug%2C+Kristin+Nielsen%22">Varhaug, Kristin Nielsen</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Carlsen%2C+Trude+Morken%22">Carlsen, Trude Morken</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Knappskog%2C+Per%22">Knappskog, Per</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rydning%2C+Siri+Lynne%22">Rydning, Siri Lynne</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Saleem%2C+Suraiya%22">Saleem, Suraiya</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Acta+Neurologica+Scandinavica%22">Acta Neurologica Scandinavica</searchLink>. 5/29/2026, Vol. 2026, p1-7. 7p.
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  Data: <searchLink fieldCode="DE" term="%22Cerebellar+ataxia%22">Cerebellar ataxia</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+profile%22">Genetic profile</searchLink><br /><searchLink fieldCode="DE" term="%22Phenotypes%22">Phenotypes</searchLink><br /><searchLink fieldCode="DE" term="%22Disease+progression%22">Disease progression</searchLink><br /><searchLink fieldCode="DE" term="%22Neurodegeneration%22">Neurodegeneration</searchLink><br /><searchLink fieldCode="DE" term="%22Vestibulo-ocular+reflex%22">Vestibulo-ocular reflex</searchLink><br /><searchLink fieldCode="DE" term="%22Neuropathy%22">Neuropathy</searchLink><br /><searchLink fieldCode="DE" term="%22Genes%22">Genes</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background: Late‐onset cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive neurodegenerative disorder defined by sensory neuropathy, cerebellar ataxia, and bilateral vestibulopathy. While each symptom impairs balance, their combination causes substantial disability. The most common cause is a biallelic intronic repeat expansion in RFC1, now recognized as a frequent etiology of late‐onset cerebellar ataxia. Objective: The objective of this study is to describe the phenotype, clinical course, and genetic profile of a Norwegian cohort with genetically confirmed CANVAS. Methods: Patients with late‐onset progressive ataxia, without a prior molecular diagnosis, and with at least one additional CANVAS‐associated feature were screened for the RFC1 (AAGGG) repeat expansions. Individuals with confirmed biallelic expansions underwent detailed clinical evaluation. Results: Among the 162 patients tested, 44 (27%) carried biallelic RFC1 expansions. Thirty‐two were clinically assessed, and one additional patient with compound heterozygosity (expansion plus truncating variant) was included. All but one (32/33) exhibited the characteristic triad. Mean age at symptom onset was 50.3 years (range 40–70). All demonstrated additional features beyond the triad, most commonly chronic cough (97%), bulbar dysfunction (85%), and dysautonomia (70%). Limb dystonia, not previously associated with RFC1‐related disease, occurred in two patients (6%). Aspiration pneumonia was the predominant cause of death (7/9, 80%). Conclusion: Our results shed light on the clinical course of CANVAS and expand its phenotypic spectrum. They underscore frequent bulbar dysfunction, dysautonomia, and the risk of aspiration pneumonia, while identifying limb dystonia as a novel manifestation of RFC1‐related disease. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
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  Group: Ab
  Data: <i>Copyright of Acta Neurologica Scandinavica is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1155/ane/6613732
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      – Code: eng
        Text: English
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      – SubjectFull: Cerebellar ataxia
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      – SubjectFull: Genetic profile
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