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Spinocerebellar ataxia

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Genetic Breakthrough: How SNUPN Gene Variants Lead to Spinocerebellar Atrophy
Posted inNeurology news Pediatrics

Genetic Breakthrough: How SNUPN Gene Variants Lead to Spinocerebellar Atrophy

Posted by By MedXY 03/06/2026
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.
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Revolutionizing Spinocerebellar Ataxia Assessment: The Novel Digital Composite Balance Score SIBA
Posted inNeurology news

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

Posted by By MedXY 10/19/2025
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 sensitivity to disease progression compared to existing scales.
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