Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy

Lancet. 1995 Sep 16;346(8977):741-2. doi: 10.1016/s0140-6736(95)91507-9.


Molecular diagnosis of childhood proximal spinal muscular atrophy has been enhanced by the discovery of the survival motor neuron (SMN) gene, which is absent or truncated in 98.6% of patients. To determine whether deletion analysis of the SMN gene may also be diagnostic for adult-onset disease, we studied six patients and found deletions in all. This finding will facilitate the diagnosis of adult-onset spinal muscular atrophy, and provides evidence for genetic homogeneity between the clinically diverse adult and childhood forms of the disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Female
  • Gene Deletion
  • Genes, Recessive
  • Humans
  • Male
  • Middle Aged
  • Motor Neurons / metabolism
  • Muscular Atrophy, Spinal / diagnosis
  • Muscular Atrophy, Spinal / genetics*
  • Spinal Muscular Atrophies of Childhood / genetics*

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