Spinocerebellar ataxia 1 is an autosomal dominant disease characterized by neurodegeneration and motor dysfunction. In disease pathogenesis, polyglutamine expansion within Ataxin-1, a gene involved in transcriptional repression, causes protein nuclear inclusions to form. Most notably, neuronal dysfunction presents in Purkinje cells. However, the effect of mutant Ataxin-1 is not entirely understood. Two mouse models are employed to represent spinocerebellar ataxia 1, a B05 transgenic model that specifically expresses mutant Ataxin-1 in Purkinje cells, and a Sca1 154Q/2Q model that inserts the polyglutamine expansion into the mouse Ataxin-1 locus so that the mutant Ataxin-1 is expressed in all cells that express Ataxin-1. This review aims to summarize and evaluate the wide variety of therapies proposed for spinocerebellar ataxia 1, specifically gene and stem cell therapies.
CITATION STYLE
Wagner, J. L., O’Connor, D. M., Donsante, A., & Boulis, N. M. (2016, August 12). Gene, stem cell, and alternative therapies for SCA 1. Frontiers in Molecular Neuroscience. Frontiers Research Foundation. https://doi.org/10.3389/fnmol.2016.00067
Mendeley helps you to discover research relevant for your work.