The childhood motor neuron disease spinal muscular atrophy (SMA) results from reduced expression of the survival motor neuron (SMN) gene. Previous studies using in vitro model systems and lower organisms have suggested that low levels of Smn protein disrupt prenatal developmental processes in lower motor neurons, influencing neuronal outgrowth, axon branching and neuromuscular connectivity. The...

Spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the SMN1 gene leading to reduced levels of full-length functional SMN protein. SMN is a critical mediator of spliceosomal protein assembly, and complete loss or drastic reduction in protein leads to loss of cell viability. However, the reason for selective motor neuron degeneration when SMN is reduced t...

Mutation of the survival motor neurons 1 (SMN1) gene causes motor neuron apoptosis and represents the major cause of spinal muscular atrophy in humans. Biochemical studies have established that the SMN protein plays an important role in spliceosomal small nuclear ribonucleoprotein (snRNP) biogenesis and that the SMN complex can interact with the zinc finger protein ZPR1. Here we report that tar...

Motor neuron disease is a clinically heterogeneous disease with significant differences in survival. The authors have characterised a subset of long term survivors seen in a tertiary clinic over a 12 year period in terms of clinical variables and demographics, comparing them with short term survivors and the remaining population. Thirty of 769 patients survived more than 10 years, corresponding...

Despite recent data on the cellular function of the survival motor neuron (SMN) gene, the spinal muscular atrophy (SMA) disease gene, the role of the SMN protein in motor neurons and hence in the pathogenesis of SMA is still unclear. The spatial and temporal expression of SMN in neurons, particularly during development, could help in verifying the hypotheses on the SMN protein functions so far ...

amyotrophic lateral sclerosis (als), the most common form of motor neuron disease, is a progressive and devastating disease involving both lower and upper motor neurons, typically following a relentless progression towards death. therefore, all efforts must be made by the clinician to exclude alternative and more treatable entities. als with laboratory abnormalities of uncertain significance is...