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J Korean Neurol Assoc. 2000;18(3):298-303.
- Spinocerebellar Ataxia Type 6 in Two Korean Families
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Seong-Ho Koh, M.D., Hak-Jae Noh, M.D., Seung-Hyun Kim, M.D., Hee-Tae Kim, M.D., Dong-Jin Shin, M.D.*, Myung-Kwon Kim, M.D.*, Sung-Sup Park, M.D. † , Ji-Yeon Kim, M.D. † , Beom-S. Jeon, M.D. ‡
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Department of Neurology, Hanyang University College of Medicine Department of Neurology, Gachon Medical College, Gil Medical Center* Department of Clinical Pathology † and Neurology ‡ , College of Medicine, Seoul National University
- 한국의 두 가계에서 밝혀진 척수소뇌성 실조증 6형
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고성호 노학재 김승현 김희태 신동진*김명권*박성섭 † 김지연 † 전범석 ‡, 고성호 노학재 김승현 김희태 신동진*김명권*박성섭 † 김지연 † 전범석 ‡
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한양대학교 의과대학 신경과학교실,가천의과대학 인천 길병원 신경과* 서울대학교 의과대학 임상병리과학교실 † ,신경과학교실 ‡
- Abstract
- Background
: Spinocerebellar ataxia 6 (SCA6) is an autosomal dominant spinocerebellar degeneration and caused by the expansion of the polymorphic CAG repeat in the human alpha 1A -voltage-dependent calcium channel subunit gene. In this study, we report the clinical and molecular genetic characteristics of SCA6 in 2 Korean families. We fur-ther describe that SCA6 and Episodic ataxia type 2 are simultaneously developed in same family showing no intergen-erational changes of CAG repeat numbers. Methods : Seventeen members of one family and nine of the other received detailed neurological examination and history taking at least one occasion. After the screening test, molecular diagnos-tic test by using Zhuchenko
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- 초록
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