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J Korean Child Neurol Soc. 2000 Dec;8(2):324-328. Korean. Case Report.
Hong S , Lee GH , Yang DW , Lee W , Lee B , Kim JW .
Department of Neurology, Dankook Medical center, Dankook University, Seoul, Korea.
Department of Pediatrics, Dankook Medical center, Dankook University, Seoul, Korea.
Department of Clinical Pathology, Samsung Medical center, Sung Kyun Kwan University, Seoul, Korea.
Abstract

This is a case of a boy with autosomal dominant cerebellar ataxia (SCA type 2), which was confirmed by DNA analysis. A 9-year-old boy had been suffering from tremor in both arm and leg for 5 years. After traffic accident, a year ago, the symtoms were more aggravated, and he visted our hospital. The boy showed slow saccades, decreased DTR, ataxic gait and limb ataxia. We analyzed DNA repetition, which revealed positive for the SCA2 expanded repeat.

Copyright © 2019. Korean Association of Medical Journal Editors.