Identification of a new genetic cause of complex early-onset dystonia

BRC-supported researcher, Dr Manju Kurian has collaborated with researchers at the University of Cambridge and the NIHR Rare Disease Bioresource, to identify a new genetic cause of complex early-onset dystonia.

Dystonia is a movement disorder, affecting around 70,000 people in Britain and is characterised by abnormal body movements and postures. Currently for a large proportion of children with childhood-onset dystonia, the underlying cause remains unknown.

This paper defines a new genetic movement disorder, reporting 27 patients with early-onset complex progressive dystonia, associated with variations in the gene, KMT2B. The research suggests that this newly defined disorder could be effectively treated with deep brain stimulation (DBS) – 10 of the 27 patients reported were treated with bilateral globus palidus interna DBS, all 10 patients showed clinical benefit with some patients re-gaining the ability to walk, with marked improvement of dystonic symptoms. For five of the patients it has now been three years since DBS insertion and all five have shown sustained reduction in dystonia, restoration of function and prevention of progressive disability.

This research has identified a clinically recognizable form of genetic dystonia, which has shown to be treatable through DBS, findings which have been published in Nature Genetics and highlighted in The Telegraph, The Guardian and The Daily Mail.