Spinal muscular atrophy: Factors that modulate motor neurone vulnerability.
Spinal muscular atrophy (SMA), a leading genetic cause of infant death, is a neurodegenerative disease characterised by the selective loss of particular groups of motor neurones in the anterior horn of the spinal cord with concomitant muscle weakness. To date, no effective treatment is available, however, there are ongoing clinical trials are in place which promise much for the future. However, there remains an ongoing problem in trying to link a single gene loss to motor neurone degeneration. Fortunately, given successful disease models that have been established and intensive studies on SMN functions in the past ten years, we are fast approaching the stage of identifying the underlying mechanisms of SMA pathogenesis Here we discuss potential disease modifying factors on motor neurone vulnerability, in the belief that these factors give insight into the pathological mechanisms of SMA and therefore possible therapeutic targets.
Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
Wen-Yo
WY
Tu
Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
Julie E
JE
Simpson
Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
J Robin
JR
Highley
Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK. Electronic address: p.heath@sheffield.ac.uk.
Paul R
PR
Heath
D000818:Animals; D006801:Humans; D009046:Motor Neurons / Q000502:physiology*; D009134:Muscular Atrophy, Spinal / Q000503:physiopathology*
Disease modifier; Motor neurone disease; SMA; SMN; Selective vulnerability