title: Spinal muscular atrophy.
abstract: The spinal muscular atrophies are a group of mostly inherited disorders selectively affecting the lower motor neuron. There is a wide degree of clinical and genetic heterogeneity that must be taken into account when giving prognostic information. Autosomal recessive childhood proximal SMA is the commonest form and is due to mutations in a gene encoding a novel protein, SMN, that appears to play a critical role in RNA metabolism but has also been shown to interact with actin-binding proteins and mediators of programmed cell death. The identification of the genetic basis of SMA has resulted in advances for prenatal diagnosis and in new insights into motor neuron biology. The chromosomal location of two of the rarer dominant forms of SMA has been found. Identification of the molecular pathophysiology of lower motor neuron syndromes can be expected to aid in the development of therapy for these disabling disorders.
authors.affiliation: Department of Clinical Neurology, University of Oxford, UK.
authors.forename: K
authors.initials: K
authors.lastname: Talbot
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
mesh_terms: D000328:Adult; D002648:Child; D017362:Cyclic AMP Response Element-Binding Protein; D006801:Humans; D007223:Infant; D009046:Motor Neurons / Q000502:physiology; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000503:physiopathology*; D009419:Nerve Tissue Proteins / Q000235:genetics; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins