Spinal muscular atrophy.
Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons associated with muscle paralysis and atrophy. Childhood SMA is a common recessive autosomal disorder and represents one of the most common genetic causes of death in childhood. The pathophysiology remains unknown, and no curative treatment is available so far. The last 10 years have seen major advances in the field of SMA, which are starting points towards understanding the SMA pathogenesis and developing therapeutic strategies for this devastating neurodegenerative disease.
Cifuentes-Diaz
Carmen
C
Molecular Neurogenetics Laboratory, Institut National de la Santé et de la Recherche Médicale, Université d'Evry, Genopole, France.
Frugier
Tony
T
Melki
Judith
J
D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D017362:Cyclic AMP Response Element-Binding Protein; D017353:Gene Deletion; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins