| 조기 발현 파킨슨병 환자에서 SCA2, SCA3과
SCA17 유전자 내의 삼염기 반복수 변화 |
| 최정미, 우명수a 김세미a 마효일b 성영희c 이필휴d 정선주e 김중석f 강석윤g 신혜원g
류철형g 손영호g 김진호h 김재우I 김상진j 백종삼j 박미영k 이명식g 이명종e 김윤중a,b |
| 한림대학교 일송생명과학연구소a, 한림대학교 의과대학 신경과학교실b, 가천대학교 의과대학 신경과학교실c,
아주대학교 의과대학 신경과학교실d, 울산대학교 의과대학 신경과학교실e, 가톨릭대학교 의과대학 신경과학교실f,
연세대학교 의과대학 신경과학교실g, 조선대학 |
| Trinucleotide Repeats Number in SCA2, SCA3, and SCA17 in Early-Onset Parkinson's Disease |
| Jung Mi Choi |
| Ilsong Institute of Life Science, Hallym University, Department of Neurologya, Hallym University College of Medicineb, Gachon University College of Medicinec, Ajou University School of Medicined, University of Ulsan College of Medicinee, The Catholic University of Korea, College of Medicinef, Yonsei University College of Medicineg, Chosun University College of Medicineh, Dong-A University College of Medicinei, Inje University College of Medicinej, Yeungnam University College of Medicin다 |
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| 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.KeyWords:Parkinson’s disease, Trinucleotide repeats disease, SCA2, SCA3, SCA17, Genetics, Mutation |
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