| Molecular genetic analysis of a new form of spinocerebellar ataxia in a Chinese Han family. | |
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MedLine Citation:
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PMID: 20685612 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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The pathological changes of spinocerebellar ataxias (SCAs), mainly include the degeneration of the cerebellum, spinal cord and brainstem. To investigate the genotype of a three-generation Chinese Han pedigree with an autosomal dominant SCA for clinical diagnosis and genetic counseling, direct mutation test and linkage analysis were performed. SCA1-8, SCA10-14, SCA17, SCA27 and dentatorubral-pallidoluysian atrophy (DRPLA) were excluded by mutation analysis while SCA 15/16/29, SCA18, SCA19/22, SCA20, SCA21, SCA23, SCA25, SCA26, SCA28 and SCA30 were excluded by linkage analysis. Therefore, we excluded all of the previously identified SCA-associated genes and loci. Interestingly, one patient (III-13) had a novel mutation of the pleckstrin homology domain containing, family G (with RhoGef domain) member 4 gene (PLEKHG4), and another patient (II-7) had a novel mutation of the beta-III spectrin gene (SPTBN2) (Genbank accession numbers FJ905766 and FJ811850, respectively). However, mutations of the PLEKHG4 gene and the SPTBN2 gene are not the causes of SCAs in this family. We conclude that this autosomal dominant cerebellar ataxia family is likely a new genotype of SCAs. |
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Authors:
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Yuan Yuan; Xin Zhou; Feng Ding; Yumin Liu; Jiancheng Tu |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2010-6-4 |
Journal Detail:
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Title: Neuroscience letters Volume: - ISSN: 1872-7972 ISO Abbreviation: - Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-8-5 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7600130 Medline TA: Neurosci Lett Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2010. Published by Elsevier Ireland Ltd. |
Affiliation:
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Center for Gene Diagnosis, Zhongnan Hospital, Wuhan University, Wuhan 430071, China. |
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