Spinocerebellar Ataxia Type 13 is an Uncommon SCA Subtype in the Chinese Han Population

被引：3

作者：

Peng, Lan ^{[1
]}

Wang, Chunrong ^{[1
]}

Chen, Zhao ^{[1
]}

Wang, Jun-Ling ^{[1
]}

Tang, Bei-Sha ^{[1
,2
,3
]}

Jiang, Hong ^{[1
,2
]}

机构：

[1] Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China

[2] Cent S Univ, Neurodegenerat Disorders Res Ctr, Changsha 410008, Hunan, Peoples R China

[3] Cent S Univ, State Key Lab Med Genet, Changsha 410008, Hunan, Peoples R China

来源：

INTERNATIONAL JOURNAL OF NEUROSCIENCE | 2013年 / 123卷 / 07期

基金：

中国国家自然科学基金;

关键词：

Spinocerebellar ataxias; SCA13; KCNC3; gene; mutation analysis; DHPLC; DOMINANT ATAXIA; MUTATIONS; GENE; KINDREDS; KV3.3;

D O I：

10.3109/00207454.2013.763254

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders, among which SCA subtype 13 (SCA13) was found associated with mutations in the KCNC3 gene. Among 522 Chinese Han SCA patients (including familial and sporadic) we have collected since 1995, approximately 40% of them have not yet been assigned genotype. To investigate the mutation frequency of KCNC3 in SCA patients from mainland Chinese Han population, we analyzed the KCNC3 gene in 201 unrelated patients diagnosed with dominantly inherited cerebellar ataxia using the denaturing high-performance liquid chromatography (DHPLC) method. All analyzed samples displayed the normal elution profile, which denoted that no disease-related mutation was identified, suggesting that SCA13 be a rare form of SCA in mainland China.

引用

页码：450 / 453

页数：4

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