title: [The genetics of spinocerebellar ataxias].
abstract: 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: Klinik und Poliklinik für Neurologie, Universitätsklinikum Bonn, Sigmund-Freud-Str. 25, 53105, Bonn, Deutschland. heike.jacobi@ukb.uni-bonn.de
authors: H
authors: H
authors: Jacobi
authors: M
authors: M
authors: Minnerop
authors: T
authors: T
authors: Klockgether
mesh_terms: D000328:Adult; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D005858:Germany; D006801:Humans; D009460:Neurologic Examination; D010455:Peptides / Q000235:genetics; D022661:RNA, Untranslated / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D010455:Peptides; D022661:RNA, Untranslated; C097188:polyglutamine