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Semin Neurol 2001; 21(2): 189-198
DOI: 10.1055/s-2001-15264
Copyright © 2001 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

Spinal Muscular Atrophy

Kevin Talbot1 2 , Kay E. Davies2
  • 1Department of Clinical Neurology, University of Oxford, Oxford, United Kingdom
  • 2Department of Anatomy and Human Genetics, University of Oxford, Oxford, United Kingdom
Further Information

Publication History

Publication Date:
31 December 2001 (online)

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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.

KEYWORD

Spinal muscular atrophy - survival motor neuron - motor neuron

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