GENETICS OF SPINOCEREBELLAR ATAXIAS

• Hirano, Makito

• Ueno, Satoshi

Abstract

type:Article

Over the last decade, more than 25 genes responsible for spinocerebellar ataxias (SCAs) have been isolated. This review classifies hereditary SCAs into two groups: autosomal dominant and recessive ataxias, and sunmiarizes the genetic features of these diseases with some clinical characteristics. The unraveling of the molecular cause of a growing number of ataxia has revealed that these diseases are the consequences of a large variety of different mechanisms, even involving novel, unsuspected molecular pathways. The characterization of these pathways and their roles of the causative proteins will guide research over the next several years.

identifier:Journal of Nara Medical Association Vol.55 No.2 p.73-80

identifier:13450069

identifier:http://ginmu.naramed-u.ac.jp/dspace/handle/10564/224

identifier:Journal of Nara Medical Association, 55(2): 73-80

Journal

• Journal of Nara Medical Association

  Journal of Nara Medical Association 55 (2), 73-80, 2004-04-30

  奈良医学会

Keywords

• autosomal dominant ataxia
• autosomal recessive ataxia
• polyglutamine disease

Details

• CRID: 1050001337493877248
• NII Article ID: 120004972856
• NII Book ID: AA11252383
• ISSN: 13450069
• Web Site: http://hdl.handle.net/10564/224
• Web Site: https://search.jamas.or.jp/link/ui/2005259989
• Text Lang: en
• Article Type: departmental bulletin paper
• Data Source:
  • IRDB
  • CiNii Articles