Spinocerebellar ataxia (SCA) type 7 is a neurodegenerative disorder characterized by a severe and progressive cerebellar ataxia with macular dystrophy. This article focuses on the molecular and pathophysiological mechanisms involved in patients and models. This well-recognized disease in clinical practice results from an abnormally expanded number of CAG triplets in the SCA7 gene, leading to an expanded polyglutamine tract in the ataxin-7 protein. This confers toxic properties on mutant ataxin-7, which abnormally accumulates in intranuclear inclusions, and affects its normal functions in the regulation of transcription.
