Document Detail


The genetics of spinocerebellar ataxias.
MedLine Citation:
PMID:  23338152     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Spinocerebellar ataxias are genetically heterogeneous autosomal dominant ataxia disorders. To date more than 30 different subtypes are known. In Germany particularly SCA1, SCA2, SCA3 and SCA6 are prevalent, as well as the less frequent subtypes SCA5, SCA14, SCA15, SCA17 and SCA28. Genetic causes range from coding repeat expansions (polyglutamine diseases), to non-coding expansions as well as conventional mutations. In some subtypes the genetic background is currently unknown. Age of onset, typical clinical findings and geographic distribution may help to reach a correct diagnosis; however a definitive diagnosis requires molecular genetic testing.
Authors:
H Jacobi; M Minnerop; T Klockgether
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-23
Journal Detail:
Title:  Der Nervenarzt     Volume:  -     ISSN:  1433-0407     ISO Abbreviation:  Nervenarzt     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0400773     Medline TA:  Nervenarzt     Country:  -    
Other Details:
Languages:  GER     Pagination:  -     Citation Subset:  -    
Affiliation:
Klinik und Poliklinik für Neurologie, Universitätsklinikum Bonn, Sigmund-Freud-Str. 25, 53105, Bonn, Deutschland, heike.jacobi@ukb.uni-bonn.de.
Vernacular Title:
Genetik der spinozerebellären Ataxien.
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