title: Advances and challenges in developing a therapy for spinal muscular atrophy.
abstract: Spinal muscular atrophy (SMA) is a debilitating and incurable childhood onset disease characterized by the degeneration of motor neurons in the spinal cord resulting in muscular atrophy and paralysis. Over the past 20 years, there has been significant progress in understanding the molecular basis of the disease, allowing researchers to identify the main causative gene and successfully model SMA in various animals. Despite an improved understanding of the disease, there is still no effective treatment for SMA patients. Here, we discuss the current knowledge surrounding the pathogenesis of SMA, and outline recent advances toward the development of a successful therapy for this devastating disease.
authors.affiliation: School of Health Sciences, University of Notre Dame Australia, 33 Phillimore Street, Fremantle, Western Australia 6959, Australia.
authors.forename: Ryan S
authors.initials: RS
authors.lastname: Anderton
authors.forename: Frank L
authors.initials: FL
authors.lastname: Mastaglia
mesh_terms: D000818:Animals; D002986:Clinical Trials as Topic; D015316:Genetic Therapy / Q000379:methods*; D056572:Histone Deacetylase Inhibitors / Q000627:therapeutic use; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics / Q000378:metabolism*
chemical_list: D056572:Histone Deacetylase Inhibitors; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein
keywords: AAV; antisense; spinal muscular atrophy; survival motor neuron; treatment