[The genetics of spinocerebellar ataxias]
| Autor: | Jacobi, H., Minnerop, M., Klockgether, T. |
|---|---|
| Jazyk: | němčina |
| Rok vydání: | 2013 |
| Předmět: |
Adult
Neurologic Examination RNA Untranslated DNA Mutational Analysis classification [Spinocerebellar Ataxias] genetics [Peptides] Cross-Sectional Studies Trinucleotide Repeats genetics [Trinucleotide Repeats] Germany Humans Spinocerebellar Ataxias diagnosis [Spinocerebellar Ataxias] ddc:610 epidemiology [Spinocerebellar Ataxias] genetics [Spinocerebellar Ataxias] Peptides genetics [RNA Untranslated] polyglutamine |
| Zdroj: | Der Nervenarzt 84(2), 137-142 (2013). doi:10.1007/s00115-012-3637-z |
| ISSN: | 1433-0407 |
| DOI: | 10.1007/s00115-012-3637-z |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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