Relationship between VRK1 gene mutations and adult-onset spinal muscular atrophy


  • Spinal muscular atrophy (SMA) was identified in 2 adult cases with mutations in the vaccina-related kinase 1 (VRK1) gene, suggesting that VRK1 variants may play a role in adult-onset SMA without pontocerebellar atrophy.

Why this matters

    Cases of VRK1 mutation associated with clinical features of SMA have recently been identified. Results from these case reports support previous publications and suggest that genetic testing may expand clinical understanding of SMA.