For January 2018, we have selected: Mendell JR, Al-Zaidy S, Shell R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. NEJM 2017;377:1713-1722.
Spinal muscular atrophy (SMA) is caused by loss or dysfunction of the gene encoding survival motor neuron 1 protein (SMN1). Disease severity is also influenced by a second gene, SMN2, which can produce smaller amounts of this protein.