Document Detail


Spinocerebellar ataxia type 13 is an uncommon SCA subtype in the Chinese Han population.
MedLine Citation:
PMID:  23293936     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
ABSTRACT 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.
Authors:
Lan Peng; Chunrong Wang; Zhao Chen; Jun-Ling Wang; Bei-Sha Tang; Hong Jiang
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-8
Journal Detail:
Title:  The International journal of neuroscience     Volume:  -     ISSN:  1563-5279     ISO Abbreviation:  Int. J. Neurosci.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-8     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0270707     Medline TA:  Int J Neurosci     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
1Department of' Neurology, Xiangya Hospital, Central South University , Changsha, Hunan 410008 , P. R. China.
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