Molecular Mechanisms of Spinocerebellar Ataxia Type 17.

Abstract

Spinocerebellar ataxia type 17 (SCA17) is a hereditary neurodegenerative disorder characterized by progressive motor and cognitive decline, leading to severe disability and death. SCA17 is caused by a CAG repeat expansion mutation in the TBP gene, resulting in the production of an abnormally long polyglutamine tract, which classifies it as a polyglutamine disorder. At present, there is no effective treatment for SCA17, and existing therapies provide only symptomatic relief. While the exact pathogenic mechanisms of SCA17 remain unclear, the TBP mutation affects a well-characterized transcription factor, making it an ideal model for studying polyglutamine-related neurodegeneration. Here, we review the clinical features of SCA17 and explore proposed mechanisms of its pathogenesis.