Natural History of Spinocerebellar Ataxia Type 7 (SCA7)

National Eye Institute

Investigators

Linked publications, trials & patents

Abstract

Spinocerebellar Ataxia Type 7 is a neurodegenerative disease caused by an expansion of a CAG trinucleotide repeat in the coding region of the ATXN7 gene. It is distinguished from other autosomal dominant spinocerebellar ataxias by its associated retinal degeneration. Vision loss is therefore a significant comorbidity affecting the quality of life of these patients. While numerous case reports or small case series have been reported in populations from across the globe, we hope to provide more detail about the longitudinal clinical course of molecularly-confirmed SCA7 individuals and gather this information in anticipation of future clinical trials. Patients aging from teen years to seventh decade of life have been enrolled in this study, with a wide range of CAG repeat expansion (40 to 66 in the expanded allele). Patient have presented with a range of ophthalmic and ataxic findings as well as cerebellar atrophy when able to complete neuroimaging. While we continue to establish our cohort of SCA7 patients, we are focused on characterizing the anatomical and functional characteristics of SCA7 patients to advance our understanding of the progression of retinal and neurodegeneration.