We can [now] aim for a more 'precision medicine approach' to target treatment with deep brain stimulation to those likely to benefit: most importantly, we would anticipate improvement in many of those treated
- Lucy Raymond
A team of researchers from UCL Great Ormond Street Institute of Child Health, University of Cambridge and the NIHR Rare Disease Bioresource have identified mutations in a gene, called KMT2B, in 28 patients with dystonia. In most cases, the patients — many of whom were young children who were thought to have a diagnosis of cerebral palsy — were unable to walk.
Remarkably, for some patients, treatment with deep brain stimulation, in which electrical impulses are delivered to a specific brain region involved in movement, either restored or significantly improved independent walking and improved hand and arm movement. In one patient, improvements have been sustained over six years.
Given these observations, the team now suggest that testing for mutations in the gene should form part of standard testing for patients with dystonia, as this is emerging to be one of the commonest genetic causes of childhood-onset dystonia.
The research is published in Nature Genetics.
Dystonia is one of the commonest movement disorders and is thought to affect 70,000 people in the UK alone. It can cause a wide range of disabling symptoms, including painful muscle spasms and abnormal postures, and can affect walking and speech.
Through research testing of patients, the team discovered a region of chromosome 19 that was deleted from the genome of some patients with childhood-onset dystonia. Together with the NIHR Rare Disease Bioresource and international collaborators, the team then identified abnormal genetic changes in genomes from a further 18 patients in one gene, called KMT2B, where affected patients carried a mutated in their DNA.
“Through DNA sequencing, we have identified a new genetic movement disorder that can be treated with deep brain stimulation. This can dramatically improve the lives of children with the condition and enable them to have a wider range of movement with long-lasting effects,” says Dr Manju Kurian, paediatric neurologist at Great Ormond Street Hospital and Wellcome Trust-funded researcher at UCL Great Ormond Street Institute of Child Health.
“Our results, though in a relatively small group of patients, show the power of genomic research not only to identify new diseases, but also to reveal possible approaches that will allow other patients to benefit.”
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Image: Alineando secuencias (1)
Credit: Shaury Nash
Reproduced courtesy of the University of Cambridge
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