Topic: SMN2

Spinal muscular atrophy (SMA) is a rare neuromuscular disease caused by a homozygous deletion of the SMN1 gene. The resulting lack of survival motor neuron (SMN) protein leads to progressive muscle weakness and often respiratory insufficiency. There is unmet need for reliable biomarkers to predict disease severity, prognosis, and treatment effect in patients with SMA. Nusinersen is an antisense oligonucleotide that leads to an increased SMN protein production by the SMN2 genes and has been shown to be effective in children and adults with SMA. Previously, we have shown that neurofilament (NF)