척수소뇌성 실조증 2형 1례

• 영문명: A Case of Spinocerebellar Ataxia Type 2
• 발행기관: 대한소아신경학회
• 저자명: 홍상훈(Sanghoon Hong) 이근호(Geun-ho Lee) 양대웅(Dae-woong Yang) 이장욱(Wookjang Lee) 이백희(Bakee Lee) 김종원(Jong-won Kim)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제8권 제2호, 324~328쪽, 전체 5쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 2000.12.20

영문 초록

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 visited 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.

키워드

Trinucleotide repeats Spinocerebellar ataxia type 2 Autosomal dominant cerebellar ataxia