Abstract
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 language | English (US) |
---|---|
Pages (from-to) | 172-178 |
Number of pages | 7 |
Journal | Molecular Genetics and Metabolism |
Volume | 66 |
Issue number | 3 |
DOIs | |
State | Published - Mar 1999 |