| The genetics of spinocerebellar ataxias. | |
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MedLine Citation:
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PMID: 23338152 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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H Jacobi; M Minnerop; T Klockgether |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2013-1-23 |
Journal Detail:
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Title: Der Nervenarzt Volume: - ISSN: 1433-0407 ISO Abbreviation: Nervenarzt Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-1-22 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0400773 Medline TA: Nervenarzt Country: - |
Other Details:
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Languages: GER Pagination: - Citation Subset: - |
Affiliation:
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Klinik und Poliklinik für Neurologie, Universitätsklinikum Bonn, Sigmund-Freud-Str. 25, 53105, Bonn, Deutschland, heike.jacobi@ukb.uni-bonn.de. |
Vernacular Title:
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Genetik der spinozerebellären Ataxien. |
Export Citation:
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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