title: Spinal Muscular Atrophy.
abstract: Spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, SMN1. The severity of SMA is variable. The SMN2 gene produces a fraction of the SMN messenger RNA (mRNA) transcript produced by the SMN1 gene. There is an inverse correlation between SMN2 gene copy number and clinical severity. Clinical management focuses on multidisciplinary care. Preclinical models of SMA have led to an explosion of SMA clinical trials that hold great promise of effective therapy in the future.
authors.affiliation: Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH 43210-1228, USA. Electronic address: stephen.kolb@osumc.edu.
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Kolb
authors.affiliation: Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
authors.forename: John T
authors.initials: JT
authors.lastname: Kissel
mesh_terms: D000818:Animals; D056915:DNA Copy Number Variations / Q000235:genetics*; D019468:Disease Management; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000145:classification / Q000235:genetics / Q000401:mortality; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics
chemical_list: C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein
keywords: Motor neuron; SMN1; SMN2; Spinal muscular atrophy; Survival motor neuron gene