SCIENTISTS have made a breakthrough that could lead to new treatments for the most common genetic cause of death in children.

The findings by a team led by Scots researchers is said to be a significant step towards future treatment and the greater understanding of the form of childhood motor neurone disease known as floppy baby syndrome.

Professor Simon Parson, Chair in Anatomy at Aberdeen University, and colleagues at Edinburgh, Oxford and University College London, have, for the first time, shown that insufficient blood supply likely contributes to motor neurone loss in the childhood disease, spinal muscular atrophy.


Motor nerve cells (above green) and blood vessels (red) in the spinal cord.

Normally (left), many blood vessels are adjacent to the motor nerve cell, but in SMA (right) the numbers of blood vessels are dramatically reduced.

This results in low oxygen levels, which will damage the motor nerve cells.

In a paper published in Annals of Neurology, the professor describes how his research suggests that expanding the focus beyond the nervous system to include the vascular system is important for developing effective treatments for the disease.

SMA is the most common inherited cause of infant death in the world and affects one in 6,000 births.

It is usually diagnosed when infants fail to reach developmental milestones such as sitting unaided.

In the most severe cases life expectancy does not exceed three years with the cause of death usually being respiratory failure.

Mr Parson, pictured below, said: “SMA presents itself like a motor neuron disease so research and treatment has been focussed mainly around protecting motor nerve cells.

“But, we have shown that in SMA, the blood vessels that course through every structure in the body are also severely affected.

“Importantly, this results in reduced delivery of oxygen to the body, including the motor nerve cells which die in SMA.

The latest findings keeps at the forefront of understanding and treating the condition, the gene for which was first identified just over 20 years ago.

HeraldScotland: Breakthrough: Professor Simon ParsonBreakthrough: Professor Simon Parson


Vanessa Christie-Brown, research co-ordinator at The SMA Trust, which part funded the research, said: “We are delighted to have funded Professor Parson’s work on vascular involvement in SMA.

"This is an area of research which, beyond the heart, has not been looked at in SMA.r the first time, vascular abnormalities, leading to functional defects, have been shown in patients.

"Professor Parson’s findings may identify potential targets for therapy which would benefit all individuals living with SMA.

"We look forward to following and supporting Professor Parson’s future research projects.”