Analysis of genotype and clinical characteristics of spinocerebellar ataxias
Xia Mingrong
Li Shujian
Shi Yingying
He Shuang
Huang Yue
Zhang Jiewen
Abstract：Objective To analyze the genotype and clinical characteristics of spinocerebellar ataxias.Methods The CAG trinucleotide repeats in SCA1 、SCA2、SCA3、SCA6、SCA7 genes were performed by polymerase chain reaction (PCR),and the products of PCR were detected by 2% agarose gel electrophoresis techniques.According to the results,the genotype of the spino-cerebellar ataxia was determined and the clinical characteristics was analyzed.Results 7 symptomatic patients were detected, four of them were SCA3 type,three of them were SCA1 type.Their clinical manifestations were mainly limb ataxia and barylalia, and most of them were overlap.Conclusion SCA3 type is the most common subtype of spinocerebellar ataxia,followed by SCA1 type.Genetic diagnosis can contribute to identify the genotype and define clinical patients.
Keywords：spinocerebellar ataxiatrinucleotide repeatgenetic diagnosisclinical characteristic
Publication Date：2016-01-01
Online Publishing Date：2026-09-12(First online date of this platform, not the publication date of the document)
Pages：3( 196-198 )