|
KMID : 1189120140110020069
|
|
대한의학유전학회지
2014 Volume.11 No. 2 p.69 ~ p.73
|
|
|
Distribution of five common subtypes of spinocerebellar ataxia in the Korean population
|
|
Choi In-Hee
Kim Gu-Hwan
Lee Beom-Hee
Choi Jin-Ho
Yoo Han-Wook
|
|
|
Abstract
|
|
|
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±8.5 for SCA1, 42±3.1 for SCA2, 72±5.4 for SCA3, 23±1.5 for SCA6, and 50±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.
|
|
|
KEYWORD
|
|
|
Spinocerebellar ataxias, Trinucleotide repeats
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|
|