Ontology highlight
ABSTRACT:
SUBMITTER: Vinther-Jensen T
PROVIDER: S-EPMC3658194 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Vinther-Jensen Tua T Ek Jakob J Duno Morten M Skovby Flemming F Hjermind Lena E LE Nielsen Jørgen E JE Nielsen Troels Tolstrup TT
European journal of human genetics : EJHG 20121010 6
The spinocerebellar ataxias (SCA) are a genetically and clinically heterogeneous group of diseases, characterized by dominant inheritance, progressive cerebellar ataxia and diverse extracerebellar symptoms. A subgroup of the ataxias is caused by unstable CAG-repeat expansions in their respective genes leading to pathogenic expansions of polyglutamine stretches in the encoded proteins. In general, unstable CAG repeats have an uninterrupted CAG repeat, whereas stable CAG repeats are either short o ...[more]