Orlando Graziani P. Barsottini2; Juliana Maria Ferraz Sallum1
DOI: 10.5935/0004-2749.2024-0248
ABSTRACT
Spinocerebellar ataxia type 7 is a form of spinocerebellar ataxia, which is a clinically and genetically heterogeneous group of rare inherited neurodegenerative disorders. Among the spinocerebellar ataxias, the association between cerebellar ataxia and cone-rod retinal dystrophy is a strong indicator of spinocerebellar ataxia type 7. Spinocerebellar ataxia type 7 cone-rod dystrophy is a progressive, disabling, and incurable form of hereditary retinopathy. However, the field of genetics has markedly progressed in the last decades, which resulted in improved understanding of multiple aspects of spinocerebellar ataxia type 7 retinal degeneration and the emergence of new modalities of genetic therapies for other types of retinal dystrophies. This study aimed to evaluate the current knowledge on spinocerebellar ataxia type 7 retinal degeneration, including genetics and molecular mechanisms as well as their implications in pathogenesis, clinical manifestations, and potential therapeutic strategies.
Keywords: Cerebellar ataxia; Cone-rod dystrophies; Spinocerebellar ataxias; Retinal dystrophies; Retinal degeneration; Genetic therapy
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