Modeling disease progression in spinocerebellar ataxias
Elisabeth Georgii,
Thomas Klockgether,
Heike Jacobi
et al.
Abstract:Background and objectivesThe most common autosomal-dominantly inherited spinocerebellar ataxias (SCA), SCA1, SCA2, SCA3 and SCA6, account for more than half of all SCA families. Disease course is characterized by progressive ataxia and additional neurological signs. Each of these SCAs is caused by a CAG repeat expansion, leading to an expanded polyglutamine stretch in the resulting type-specific protein. To comparatively investigate determinants of disease progression, we analyzed demographic and genetic data … Show more
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