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Spinocerebellar ataxia

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Neurology

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.

Mar 6, 2026
Neurology

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

The Score of Integrated Balance in Ataxia (SIBA) is a newly developed digital composite score that accurately measures standing and walking balance in spinocerebellar ataxia, enabling smaller, more efficient clinical trials with improved se

Oct 19, 2025

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