Spinal muscular atrophy: recent advances and future prospects.
Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons associated with muscle paralysis and atrophy. Childhood SMA is a frequent recessive autosomal disorder and represents one of the most common genetic causes of death in childhood. Mutations of the SMN1 gene are responsible for SMA. The knowledge of the genetic basis of SMA, a better understanding of SMN function, and the recent generation of SMA mouse models represent major advances in the field of SMA. These are starting points towards understanding the pathophysiology of SMA and developing therapeutic strategies for this devastating neurodegenerative disease, for which no curative treatment is known so far.
Nicole
Sophie
S
Molecular Neurogenetics Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Evry, E.9913, Genopole, 2 rue Gaston Crémieux, CP 5724, 91057 Evry, France.
Diaz
Carmen Cifuentes
CC
Frugier
Tony
T
Melki
Judith
J
D000328:Adult; D017398:Alternative Splicing; D000818:Animals; D002648:Child; D017362:Cyclic AMP Response Element-Binding Protein; D004195:Disease Models, Animal; D018628:Gene Dosage; D006801:Humans; D007223:Infant; D051379:Mice; D009134:Muscular Atrophy, Spinal / Q000145:classification* / Q000235:genetics* / Q000628:therapy; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000502:physiology; D010641:Phenotype; D016601:RNA-Binding Proteins; D012106:Research / Q000639:trends*; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000145:classification / Q000235:genetics / Q000628:therapy; D055533:Survival of Motor Neuron 1 Protein
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; C526472:Smn1 protein, mouse; D055533:Survival of Motor Neuron 1 Protein