Res Vestib Sci.
2021 Mar;20(1):33-36. 10.21790/rvs.2021.20.1.33.
A Case of Spinocerebellar Ataxia Type 28
- Affiliations
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- 1Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea
- 2Department of Neurology, Pusan National University Hospital, Busan, Korea
- KMID: 2514001
- DOI: http://doi.org/10.21790/rvs.2021.20.1.33
Abstract
- 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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