AUTHOR=Wagner Jacob L. , O'Connor Deirdre M. , Donsante Anthony , Boulis Nicholas M. 

TITLE=Gene, Stem Cell, and Alternative Therapies for SCA 1

JOURNAL=Frontiers in Molecular Neuroscience

VOLUME=9

YEAR=2016

URL=https://www.frontiersin.org/journals/molecular-neuroscience/articles/10.3389/fnmol.2016.00067

DOI=10.3389/fnmol.2016.00067

ISSN=1662-5099

ABSTRACT=<p>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 <italic>Sca1 154Q/2Q</italic> 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.</p>