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Vol.55 No.2 >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10564/224

Title: GENETICS OF SPINOCEREBELLAR ATAXIAS
Authors: Hirano, Makito
Ueno, Satoshi
Keywords: autosomal dominant ataxia
autosomal recessive ataxia
polyglutamine disease
Issue Date: 30-Apr-2004
Publisher: 奈良医学会
奈良県立医科大学
Citation: Journal of Nara Medical Association Vol.55 No.2 p.73-80
Abstract: 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.
URI: http://hdl.handle.net/10564/224
ISSN: 13450069
Appears in Collections:Vol.55 No.2

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