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lüll Emerging pathogenic pathways in the spinocerebellar ataxias Carlson KM; Andresen JM; Orr HTCurr Opin Genet Dev 2009[Jun]; 19 (3): 247-53The 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.|Animals[MESH]|Humans[MESH]|Models, Biological[MESH]|Multigene Family[MESH]|Mutation[MESH]|Nerve Tissue Proteins/genetics/*physiology[MESH]|Purkinje Cells/physiology[MESH]|Signal Transduction/genetics/*physiology[MESH]|Spinocerebellar Ataxias/genetics/*physiopathology[MESH] |