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Molecular genetics of multiple system atrophy Kenju Hara 1 1Department of Neurology, Brain Reserch Institute, Niigata University Keyword: α-synuclein , 家族性MSA , parametric & non parametric連鎖解析 , Japan Multiple System Atrophy Consortium , JAMSAC pp.761-768
Published Date 2004/10/10
DOI https://doi.org/10.11477/mf.1431100233
  • Abstract
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 Multiple system atrophy(MSA)has been considered to be a representative of sporadic spinocerebellar degeneration(SCD), and is the most common form of SCD in Japan. To date, many causative genes of hereditary SCDs have been identified, and research regarding these genes, particularly those causing polyglutamine disease, have been pursued actively. However, we have just started the molecular analyses of MSA. Although alpha-synuclein, a major component of glial cytoplasmic inclusions(GCIs), which are the hallmark of MSA, is worthy of attention as a molecule associated with MSA, the relation between the polymorphism of the candidate genes including alpha-synuclein and other molecules associated with MSA, and susceptibility to MSA is unclear despite of the polymorphic analyses of these genes. Recently, we have identified familial cases of MSA, suggesting the presence of genetic components in MSA. In this article, clinical features of familial MSA and a nationwide genome analysis on the basis of multiplex families of MSA that will be conducted in the future are discussed.


Copyright © 2004, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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