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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.

Original publication

DOI

10.1055/s-2001-15264

Type

Journal article

Journal

Semin Neurol

Publication Date

06/2001

Volume

21

Pages

189 - 197

Keywords

Adult, Child, Cyclic AMP Response Element-Binding Protein, Humans, Infant, Motor Neurons, Muscular Atrophy, Spinal, Nerve Tissue Proteins, RNA-Binding Proteins, SMN Complex Proteins