UCL Queen Square Institute of Neurology


Gene mutation causes familial form of cranio-cervical dystonia

25 January 2013

Researchers from UCL’s Institute of Neurology have identified mutations in the gene ANO3 as the cause of a familial form of cranio-cervical dystonia.  Dystonia itself is a common neurological disorder which results in involuntary muscle spasms and is characterised by severe abnormal postures due to involuntary muscle spasms and affects an estimated 70,000 people in UK. Currently, there are no cures found for this disabling condition. The team of researchers, led by Professor Nick Wood and Professor Kailash Bhatia found six changes throughout the gene that might be linked to cranio-cervical dystonia, which triggers abnormal twisting or tremulous movements affecting the face, neck and arms. Of these six changes, three have shown to segregate with disease in three separate families.  The work was published in December in the American Journal of Human Genetics (Charlesworth et al., 2012). Insights into the causes of rarer, familial forms of the disease may help shed light on the cellular pathways involved in the disease as a whole.  The new ANO3 gene determines a channel that is found in the striatum, a part of the brain concerned with movement. It is hoped that an ion channel might represent a feasible target for the development of new treatments.