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조기 발현 파킨슨병 환자에서 SCA2, SCA3과 SCA17 유전자 내의 삼염기 반복수 변화

Other Titles
 Trinucleotide Repeats Number in SCA2, SCA3, and SCA17 in Early-Onset Parkinson’s Disease 
Authors
 최정미  ;  우명수  ;  김세미  ;  마효일  ;  성영희  ;  이필휴  ;  정선주  ;  김중석  ;  강석윤  ;  신혜원  ;  류철형  ;  손영호  ;  김진호  ;  김재우  ;  김상진  ;  백종삼  ;  박미영  ;  이명식  ;  이명종  ;  김윤중 
Citation
 Journal of the Korean Neurological Association, Vol.26(1) : 23-27, 2008 
Journal Title
 Journal of the Korean Neurological Association 
ISSN
 1225-7044 
Issue Date
2008
Keywords
Parkinson’s disease ; Trinucleotide repeats disease ; SCA2 ; SCA3 ; SCA17 ; Genetics ; Mutation
Abstract
BACKGROUND: Abnormal expansion of trinucleotide repeats in genes causing spinocerebellar ataxias such as SCA2, SCA3, SCA8, or SCA17 was reported in sporadic or familial Parkinson's disease. Genetic factors play an important role especially in early-onset Parkinson's disease (EOPD). To investigate mutations of ATXN2, ATXN3, and TBP as a possible cause in Korean EOPD, we analyzed mutations in these genes. We also investgated the possibility that trinucleotide repeats numbers in these genes contribute to the development of EOPD. METHODS: Mutation analysis of ATXN2, ATXN3, and TBP was done in 153 EOPD defined as age-at-onset before 51. Distribution of CAG repeats numbers were compared between EOPD and age- and sex-matched controls. RESULTS: No patients with EOPD had CAG repeats numbers in ATXN2, ATXN3, and TBP in mutation range. There was no difference in the distribution of CAG repeats between EOPD and controls, although we found a trend that CAG repeats numbers in ATXN3 appear larger in EOPD than in controls. CONCLUSIONS: Mutations of genes causing SCA2, SCA3, or SCA17 may not be a common genetic cause in Korean EOPD.
Files in This Item:
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Suk Yun(강석윤)
Lyoo, Chul Hyoung(류철형) ORCID logo https://orcid.org/0000-0003-2231-672X
Sohn, Young Ho(손영호) ORCID logo https://orcid.org/0000-0001-6533-2610
Shin, Hye Won(신혜원)
Lee, Myung Sik(이명식) ORCID logo https://orcid.org/0000-0002-8413-1854
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/106646
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