Gene responsible for neck-twisting cervical dystonia identified

Researchers have identified the gene responsible for adult-onset primary cervical dystonia. Cervical dystonia causes an involuntary twisting of the neck. When a patient came in with a twisted neck over two decades ago, neurologist Ryan Uitti did some research and found that several of the patient’s relatives also had the disorder. Now Uitti is part of a research team announcing that a mutation in the Cip1-interacting zinc finger protein (CIZ1) gene, which expresses a protein in specific nerve cells and appears to be involved in cell cycle processes, seems to be a cause of the disorder. They do not yet know the actual mechanism by which the mutation causes cervical dystonia. "It is interesting because the brain tissue of folks with this disorder looks absolutely normal," Uitti said. He also said he believes that CIZ1 is just one cause and other genes responsible for the disorder will be found. 

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