Correction of RNA Splicing with Antisense Oligonucleotides as a Therapeutic Strategy for a Neurodegenerative Disease

  • Yimin Hua
  • Kentaro Sahashi
  • Frank Rigo
  • Gene Hung
  • C. Frank Bennett
  • Adrian R. Krainer
Conference paper


Spinal muscular atrophy (SMA) is a severe genetic disease inherited in autosomal recessive fashion. It is the leading genetic cause of infant mortality. SMA is a neuromuscular disease, characterized by progressive degeneration and loss of α-motor neurons in the anterior horn of the spinal cord, which in turn leads to muscle weakness and atrophy, resulting in gradual paralysis. SMA is classified into four types on the basis of severity and time of onset: childhood-onset SMA ranges from type I, which is the most severe, to type III, which is considerably milder, with type II having intermediate severity [1–4]; adult-onset SMA is classified as type IV. There is no effective therapy for SMA.


Spinal Muscular Atrophy Survival Motor Neuron Spinal Muscular Atrophy Patient Spinal Muscular Atrophy Type Survival Motor Neuron Protein 
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Copyright information

© Springer 2012

Authors and Affiliations

  • Yimin Hua
    • 1
  • Kentaro Sahashi
    • 1
  • Frank Rigo
    • 2
  • Gene Hung
    • 2
  • C. Frank Bennett
    • 2
  • Adrian R. Krainer
    • 1
  1. 1.Cold Spring Harbor LaboratoryCold Spring HarborUSA
  2. 2.Isis PharmaceuticalsCarlsbadUSA

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