title: Gene, Stem Cell, and Alternative Therapies for SCA 1.
abstract: 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.
authors: Boulis Laboratory, Department of Neurosurgery, Emory School of Medicine Atlanta, GA, USA.
authors: Jacob L
authors: JL
authors: Wagner
authors: Boulis Laboratory, Department of Neurosurgery, Emory School of Medicine Atlanta, GA, USA.
authors: Deirdre M
authors: DM
authors: O'Connor
authors: Boulis Laboratory, Department of Neurosurgery, Emory School of Medicine Atlanta, GA, USA.
authors: Anthony
authors: A
authors: Donsante
authors: Boulis Laboratory, Department of Neurosurgery, Emory School of Medicine Atlanta, GA, USA.
authors: Nicholas M
authors: NM
authors: Boulis
keywords: Ataxin-1; RNAi; SCA 1; gene therapy; mouse model; stem cell therapy