J Korean Neurol Assoc.  2008 Feb;26(1):23-27.

Trinucleotide Repeats Number in SCA2, SCA3, and SCA17 in Early-Onset Parkinson's Disease

  • 1Ilsong Institute of Life Science, Hallym University, Korea. yunkim@hallym.ac.kr
  • 2Department of Neurology, Hallym University College of Medicine, Korea.
  • 3Department of Neurology, Gachon University College of Medicine, Korea.
  • 4Department of Neurology, Ajou University School of Medicine, Korea.
  • 5Department of Neurology, University of Ulsan College of Medicine, Korea.
  • 6Department of Neurology, The Catholic University of Korea, College of Medicine, Korea.
  • 7Department of Neurology, Yonsei University College of Medicine, Korea.
  • 8Department of Neurology, Chosun University College of Medicine, Korea.
  • 9Department of Neurology, Dong-A University College of Medicine, Korea.
  • 10Department of Neurology, Inje University College of Medicine, Korea.
  • 11Department of Neurology, Yeungnam University College of Medicine, Korea.


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.
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.
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.
Mutations of genes causing SCA2, SCA3, or SCA17 may not be a common genetic cause in Korean EOPD.


Parkinson's disease; Trinucleotide repeats disease; SCA2; SCA3; SCA17; Genetics; Mutation

MeSH Terms

Parkinson Disease
Spinocerebellar Ataxias
Trinucleotide Repeats
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