Meet our researchers: Dr Thomas Warner and childhood dystonia

We have funded research by leading researcher Dr Thomas Warner who was investigating childhood dystonia at the Institute of Neurology, London.

He said, “Childhood onset dystonia is a severe and disabling form of movement disorder characterised by involuntary muscle spasms.

It is most commonly due to a genetic change (mutation) in the DYTI gene. This gene encodes a protein called torsinA, which is found in most cells, especially those in our brain, which are called neurons. Understanding how this gene and protein work in healthy people with dystonia would represent an invaluable step forward into why dystonic movements arise. It may also identify treatment strategies with which to tackle this incurable condition”

His findings are of great significance as, for the first time, they provide a link between the mutated DYT1 gene and abnormal nerve cell signalling which leads to dystonic movements.

This integrated programme of experiments have helped understand torsinA function(s) in neuronal cells and how the mutated form leads to the development of abnormal movements.