Emerging pathogenic pathways in the spinocerebellar ataxias.
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.
Carlson
Kerri M
KM
Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55455, United States. carl2327@umn.edu
Andresen
J Michael
JM
Orr
Harry T
HT
D000818:Animals; D006801:Humans; D008954:Models, Biological; D005810:Multigene Family; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000502:physiology*; D011689:Purkinje Cells / Q000502:physiology; D015398:Signal Transduction / Q000235:genetics / Q000502:physiology*; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000503:physiopathology*
D009419:Nerve Tissue Proteins