A Case of Spinocerebellar Ataxia Type 2.

Hong,  Sanghoon; Lee,  Geun Ho; Yang,  Dae Woong; Lee,  Wookjang; Lee,  Bakee; Kim,  Jong Won

Case Report

Journal of the Korean Child Neurology Society 2000;8(2):324-328.
Published online December 30, 2000.

A Case of Spinocerebellar Ataxia Type 2.

Sanghoon Hong, Geun Ho Lee, Dae Woong Yang, Wookjang Lee, Bakee Lee, Jong Won Kim

¹Department of Neurology, Dankook Medical center, Dankook University, Seoul, Korea.
²Department of Pediatrics, Dankook Medical center, Dankook University, Seoul, Korea.
³Department 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.

Key Words: Trinucleotide repeats, Spinocerebellar ataxia type 2, Autosomal dominant cerebellar ataxia