[HTML][HTML] Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1

HY Zoghbi, HT Orr - Journal of Biological Chemistry, 2009 - ASBMB
Spinocerebellar ataxia type 1 (SCA1) is one of nine inherited neurodegenerative diseases
caused by the expansion of a CAG trinucleotide repeat encoding a polyglutamine tract.
SCA1 patients lose motor coordination and develop slurred speech, spasticity, and cognitive
impairments. Difficulty with coordinating swallowing and breathing eventually causes death.
Genetic evidence indicates that the disease mutation induces a toxic gain of function in the
SCA1 encoded protein ATXN1. The discovery that residues in ATXN1 outside of the …