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- W2372783114 abstract "Objective To assess the clinical phenotype and characteristics of spinocerebellar ataxia type 2(SCA2)gene mutation in Chinese patients with spinocerebellar ataxia (SCA) Methods The polymorphic(CAG)n copies in SCA2 gene were determined with polymerase chain reaction and denaturing polyacrylamide gel electrophoresis analysis in 167 SCA patients from 85 unrelated Chinese autosomal dominant SCA kindreds Results The mutated SCA2 alleles ranging from 42 to 47 CAG repeats were observed in 12 patients from 5 kindreds, while the normal alleles ranging from 13 to 30 repeats One asymptomatic individual had an expanded allele of 40 CAG repeats The SCA2 patients had mainly cerebella ataxia, dysarthria, hypotonia, decreased reflex, visual loss, swallow difficulty and dementia In addition, the size of expanded (CAG )n copies was inversely correlated with the age of onset of SCA2 Conclusion Although (CAG)n copiers have influence on disease phenotype, they can not be considered as the only predictable index of clinical features" @default.
- W2372783114 created "2016-06-24" @default.
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- W2372783114 date "2000-01-01" @default.
- W2372783114 modified "2023-09-23" @default.
- W2372783114 title "Characteristics of spinocerebellar ataxia type 2 gene mutation dictation in hereditary spinocerebellar ataxia" @default.
- W2372783114 hasPublicationYear "2000" @default.
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