Animal models of spinal muscular atrophies: towards a better understandingof pathophysiology and development of therapeutics

Spinal muscular-atrophies (SMA) are a group of neuromuscular disorders char acterised by a degeneration of motorneurons associated with muscle paralysi s and atrophy. The identification of the disease-causing gene, the understa nding of the genetic bases of severe or mild forms of SMA, a better knowled ge of SMN function and the generation of animal models made it possible to define several therapeutic strategies. These will be investigated on availa ble models to test their efficiency.