J Korean Neurol Assoc.
2025 Feb;43(1):45-49. 10.17340/jkna.2024.0067.
A Genetically Confirmed Korean Case of CANVAS: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
- Affiliations
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- 1Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
- 2Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
- 3Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
- 4Inocras Inc., Daejeon, Korea
- KMID: 2564409
- DOI: http://doi.org/10.17340/jkna.2024.0067
Abstract
- Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a neurodegenerative disorder caused by a biallelic expansion of pentanucleotide repeats in the RFC1 gene. Previous studies have reported up to 22% of patients with late-onset ataxia harbor this pathogenic repeat expansion. Despite its relatively high prevalence, CANVAS is often underdiagnosed because the disease is not well recognized and genetic testing is not performed in clinical practice. Here, we present a patient with characteristic clinical features, confirmed by genetic testing.
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