[2017 Round-up] Neurodegeneration: the first mechanistic therapy and other progress in 2017

The news about mechanistic therapies in neurodegeneration has been generally rather glum, particularly with the disappointing results of trials targeting β-secretase for Alzheimer's disease. However, in my view, the most important development in neurodegeneration research in 2017 has been the introduction of successful gene-based therapies for spinal muscular atrophy, which is caused by mutations in the SMN1 gene.1,2 One phase 1–2 trial1 assessed the effect of injection of adeno-associated virus carrying SMN1 cDNA, and a phase 3 trial2 assessed intrathecal injection of an antisense oligonucleotide (nusinersen) that corrects the missplicing of the SMN2 pseudogene, allowing it to produce enough active survival motor neuron protein to compensat e for the lack of function of the mutated SMN1 gene.
Source: Lancet Neurology - Category: Neurology Authors: Tags: 2017 Round-up Source Type: research