Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2785295 | Current Opinion in Genetics & Development | 2009 | 7 Pages |
Abstract
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 calcium-dependent neuronal signaling as important pathways leading to cerebellar dysfunction. Understanding how these genes cause disease will allow a deeper understanding of the cerebellum in particular as well as neurodegenerative disease in general.
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Authors
Kerri M Carlson, J Michael Andresen, Harry T Orr,