Research in Vestibular Science

Case Report

A Case of Spinocerebellar Ataxia Type 28: Jae-Hwan Choi, Eun Hye Oh, Seo Young Choi, Kwang-Dong Choi; Res Vestib Sci. 2021;20(1):33-36. Published online March 11, 2021; DOI: https://doi.org/10.21790/rvs.2021.20.1.33

Abstract PDF: Spinocerebellar ataxia type 28 (SCA 28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia, dysarthria, nystagmus, ptosis, and ophthalmoplegia. It is caused by a heterozygous pathogenic mutation in the AFG3L2. So far, approximately 80 cases with genetically-confirmed SCA 28 have been reported in the literature. We report a patient with mild gait ataxia and dysarthria who carried a known pathogenic mutation in the AFG3L2. This is the first report of genetically-confirmed SCA 28 in Korea.

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