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Clinically Discordant Siblings with Spinal Muscular Atrophy: Insights from Patient-Specific iPSC-Derived Motor Neurons and Literature Review

2025-09-12 neurology Title + abstract only
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Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by homozygous loss of the SMN1 gene. Copy number of the nearly identical paralog, SMN2, correlates with disease severity. SMN2 is the primary modifier of SMA, with only a few other modifiers reported. We reviewed the literature of rare siblings affected by SMA that show discordance in clinical presentation despite having the same number of SMN2 copies, which predicts the presence of genetic modifiers. We further recruited a sibl...

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