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KMID : 0359720080260010023
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Journal of the Korean Neurological Association
2008 Volume.26 No. 1 p.23 ~ p.27
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Trinucleotide Repeats Number in SCA2, SCA3, and SCA17 in Early-Onset Parkinson’s Disease
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Choi Jung-Mi
Woo Myoung-Soo
Kim Se-Mi
Ma Hyeo-Il
Sung Young-Hee
Lee Phil-Hyu
Chung Sun-Ju
Kim Joong-Seok
Kang Suk-Yun
Shin Hae-Won
Lyoo Chul-Hyoung
Sohn Young-Ho
Kim Jin-Ho
Kim Jae-Woo
Kim Sang-Jin
Baik Jong-Sam
Park Mee-Young
Lee Myung-Sik
Lee Myoung-Chong
Kim Yun-Jung
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Abstract
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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.
Conclusion : Mutations of genes causing SCA2, SCA3, or SCA17 may not be a common genetic cause in Korean EOPD.
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KEYWORD
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Parkinson’s disease, Trinucleotide repeats disease, SCA2, SCA3, SCA17, Genetics, Mutation
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