Article
Emerging pathogenic pathways in the spinocerebellar ataxias.
Current opinion in genetics & development - 1 Jun 2009
Carlson Kerri M, Andresen J Michael, Orr Harry T
Abstract excerpt
The spinocerebellar ataxias (SCAs) are diseases characterized by neurodegeneration of the spinocerebellum. To date, 28 autosomal dominant SCAs have been described and seventeen causative genes identified. These genes play a role in a broad range of cellular processes. Recent studies focused on the wild type and pathogenic functions of these genes implicate both gene expression and glutamate-dependent and...
Topics
- Animals
- Humans
- Models, Biological
- Multigene Family
- Mutation
- Nerve Tissue Proteins
- Purkinje Cells
- Signal Transduction
- Spinocerebellar Ataxias