Severe brain involvement in spinal muscular atrophy

Takeaway

  • Brain changes in severe forms of spinal muscular atrophy (SMA) were progressive over time possibly due to severe reduction in survival motor neuron (SMN) protein levels.

Why this matters

  • Most patients with SMA type 0 die in the first weeks of life; early intervention with SMN2-splicing modulators or gene transfer of SMN1 might interfere with or modify progression.