Spinal muscular atrophy: going beyond the motor neuron

Gillian Hamilton, Thomas Gillingwater

Research output: Contribution to journalArticlepeer-review

293 Citations (Scopus)


Spinal muscular atrophy (SMA) is a neuromuscular disease caused by abnormally low cellular levels of the ubiquitous protein SMN. Traditionally, reduced levels of SMN were thought to cause the selective death of lower motor neurons, leading to denervation and atrophy of skeletal muscles. However, numerous recent studies challenge the notion that SMA is solely a disease of lower motor neurons, indicating that SMA may actually be a multi-system disorder.
Original languageEnglish
Pages (from-to)40-50
Number of pages11
JournalTrends in Molecular Medicine
Issue number1
Publication statusPublished - Jan 2013


  • spinal muscular atrophy
  • neuromuscular disease
  • motor neurons


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