지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 69 - 73 (5page)
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초록· 키워드
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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.
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참고문헌 (14)
참고문헌 신청
Bird TD / Hereditary Ataxia Overview
Schöls L / 2004 / Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis / Lancet Neurol 3:291~304
Durr A / 2010 / Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond / Lancet Neurol 9:885~894
Orr HT / 2007 / Trinucleotide repeat disorders / Annu Rev Neurosci 30:575~621
Ruano L / 2014 / The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies / Neuroepidemiology 42:174~183
Schöls L / 2004 / Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis / Lancet Neurol 3:291~304
Durr A / 2010 / Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond / Lancet Neurol 9:885~894
Orr HT / 2007 / Trinucleotide repeat disorders / Annu Rev Neurosci 30:575~621
Ruano L / 2014 / The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies / Neuroepidemiology 42:174~183
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