Pathogenesis of polyglutamine-induced disease: A model for SCA1

Ivan A. Klement, Huda Y. Zoghbi, Harry T. Orr

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


During the past 7 years several inheritable neurological disorders have been found to be due to the expansion of an unstable CAG trinucleotide repeat that leads to an increase in the length of a polyglutamine tract within a disease-specific protein. Based on pathological evidence obtained from the brains of affected individuals and transgenic mice expressing a mutant human gene, it was proposed that the formation of nuclear aggregates of the polyglutamine protein plays a critical role in pathogenesis. However, recent evidence indicates that this may not be the case. This review focuses on our results for one of these disorders, spinocerebellar ataxia type 1 (SCA1), and presents a model for SCA1 pathogenesis.

Original languageEnglish (US)
Pages (from-to)172-178
Number of pages7
JournalMolecular Genetics and Metabolism
Issue number3
StatePublished - Mar 1999


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