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Distribution of five common subtypes of spinocerebellar ataxia in the Korean population
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  • Distribution of five common subtypes of spinocerebellar ataxia in the Korean population
  • Distribution of five common subtypes of spinocerebellar ataxia in the Korean population
저자명
Choi. In-Hee,Kim. Gu-Hwan,Lee. Beom-Hee,Choi. Jin-Ho,Yoo. Han-Wook
간행물명
Journal of genetic medicine
권/호정보
2014년|11권 2호|pp.69-73 (5 pages)
발행정보
대한의학유전학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

Purpose: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease for which more than 30 subtypes have been identified. However, 5 subtypes, SCA1, SCA2, SCA3, SCA6, and SCA7, account for more than 60% of cases. In this study, we report the distribution of these 5 subtypes in Korean patients. Materials and Methods: Six hundred and thirty-eight unrelated patients with a presumptive diagnosis of SCA were included in this study. Trinucleotide (CAG) repeat number (TNR) repeat number was determined using fluorescently labeled primers and fragment analysis. Results: A total of 128 unrelated patients (20.1% of all individuals tested) tested positive for SCA subtypes, including SCA1 (5 patients, 3.9% of those testing positive), SCA2 (38 patients, 29.7%), SCA3 (30 patients, 23.4%), SCA6 (39 patients, 30.5%), and SCA7 (16 patients, 12.5%). The mean copy number of pathogenic TNR alleles was $45{pm}8.5$ for SCA1, $42{pm}3.1$ for SCA2, $72{pm}5.4$ for SCA3, $23{pm}1.5$ for SCA6, and $50{pm}11.4$ for SCA7. TNR copy number was inversely correlated with onset age in SCA2, SCA6, and SCA7. Conclusion: SCA2, SCA3, and SCA6 are common SCA subtypes in Korean patients and could be screened as a first-line test. Expanded pathogenic allele size was associated with early onset age.