| 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 |
Related Documents
:
|
22939396 - Kit mutation detection in tunisian patients with newly diagnosed myelogenous leukemia: ... 20224596 - Fals with fus mutation in japan, with early onset, rapid progress and basophilic inclus... 8909456 - D90a heterozygosity in the sod1 gene is associated with familial and apparently sporadi... 20515426 - I112m sod1 mutation causes als with rapid progression and reduced penetrance in four me... 6253786 - A new genetic basis for hemoglobin-h disease. 15829726 - Single-locus gametophytic incompatibility in autotetraploids. |
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. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: The evolving role of HER2 evaluation for diagnosis and clinical decision making for breast and gastr...
Next Document: Dissociation between patients and their partners in expectations for sexual life after radical prost...