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Genetic Breakthrough: How SNUPN Gene Variants Lead to Spinocerebellar Atrophy
Neurologygeneticsneurology

Genetic Breakthrough: How SNUPN Gene Variants Lead to Spinocerebellar Atrophy

By MedXY|Mar 6, 2026

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
Neurologyclinical trialsSpinocerebellar ataxia

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

By MedXY|Oct 19, 2025

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

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