A Genetically Confirmed Korean Case of CANVAS: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Author: Seung Hee LEE ¹ ; Hee-Jae JUNG ; Ji-Hee YOON ; Gu-Hwan KIM ; June-Young KOH ; Yuna LEE ; Young Seok JU ; Eun-Jae LEE ; Beom Hee LEE ; Young-Min LIM ; Hyunjin KIM
Author Information

1. Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Publication Type:Case Report
From:Journal of the Korean Neurological Association 2025;43(1):45-49
CountryRepublic of Korea
Language:Korean
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.