| First Author | Clark HB | Year | 2000 |
| Journal | J Neuropathol Exp Neurol | Volume | 59 |
| Issue | 4 | Pages | 265-70 |
| PubMed ID | 10759181 | Mgi Jnum | J:62385 |
| Mgi Id | MGI:1858824 | Doi | 10.1093/jnen/59.4.265 |
| Citation | Clark HB, et al. (2000) Spinocerebellar ataxia type 1--modeling the pathogenesis of a polyglutamine neurodegenerative disorder in transgenic mice. J Neuropathol Exp Neurol 59(4):265-70 |
| abstractText | Spinocerebellar ataxia type 1 (SCA1) is one of a group of dominantly inherited neurodegenerative diseases caused by a mutant expansion of a polyglutamine-repeated sequence within the affected gene. One of the major cell types affected by the gene (ataxin-1) mutation in SCA1 is the cerebellar Purkinje cell. Targeted expression of mutant ataxin-1 in Purkinje cells of transgenic mice produces an ataxic phenotype with pathological similarities to the human disease. Other transgenic experiments using altered forms of mutant ataxin-1 have shown that nuclear localization of the mutant protein is necessary for pathogenesis and that nuclear aggregates of ubiquitinated mutant protein, while a feature of SCA1 and other polyglutamine diseases, are not a requirement for pathogenesis in transgenic models of SCA1. Present and future generations of transgenic mouse models of SCA1 will be valuable tools to further address mechanisms of pathogenesis in polyglutamine-related disorders. |
