Spinocerebellar ataxia

Genetic Breakthrough: How SNUPN Gene Variants Lead to Spinocerebellar Atrophy

Researchers have discovered that mutations in the SNUPN gene cause spinocerebellar atrophy by disrupting RNA splicing in Purkinje cells, expanding the understanding of neurodevelopmental disorders beyond muscular conditions.

Revolutionizing Spinocerebellar Ataxia Assessment: The Novel Digital Composite Balance Score SIBA