CDKL5 deficiency syndrome (CDD) is a serious genetic encephalopathy that affects children immediately after birth. Affected children cannot communicate with language, they are rarely able to walk, and have epileptic seizures and highly disabling cognitive and motor disorders. About 13,000 families worldwide are impacted by this disease and around 750 new cases are recorded each year. CDD does not have conclusive care, although there are studies aimed at developing new therapies.
Until now, it was believed that the symptoms of CDD were due to an altered action of the CDKL5 protein in the brain, however, a new study published in Science Translational Medicine and the result of an international collaboration between the laboratories of the Institute of Neuroscience of the National Research Council (Cnr-In) of Pisa, the University of Florence, the Francis Crick Center, the Imperial College and King's College of London, Universities of Cardiff and Western Australia (Perth), the Institute of Science and Technology of Barcelona and the Wisconsin Medical College of Milwaukee, found that the cells that act as pain sensors are also strongly impacted by the CDKL5 mutation, thus causing an altered perception of pain.
“These cells are located outside the central nervous system and detect pain through nerve endings placed throughout the body,” explains Tommaso Pizzorusso, a professor of Psychobiology and Physiological Psychology of the Unifi Department of Neuroscience, Drug Research and Child Health and researcher at Cnr-In. “The discovery shows for the first time that CDD therapies shouldn't be targeted exclusively to the brain. Furthermore, the new finding that pain perception is altered in patients and animal models with CDD suggests that this aspect should be evaluated in these children. In fact, untreated alterations of pain perception can determine cognitive and neuroendocrine alterations, as well as being invalidating in themselves.”
