EurDyscover - DYT1 dystonia

Project’s full name: Pathophysiology of dystonia – role of gene-environment interaction and common pathophysiological pathways

What is dystonia?

Dystonia is a neurological disease that, although considered rare, affects 3 million people worldwide. This disease is characterized by an increase in muscle contractions, leading to abnormal movements and postures. Its manifestation is varied and may appear only in one limb or body segment (focal dystonia) or involving the whole body (generalized dystonia). Additionally, dystonia can appear as a symptom of other neurological diseases (such as Parkinson’s disease) or as a side effect of some chronic treatments. Nevertheless, this disease is highly disabling, and its manifestation can even begin during childhood. To date, its pathophysiology remains unknown and therapeutic options, such as deep brain stimulation, are invasive and limited. Thus, there is an urgent need for new treatments for dystonias.

The EurDyscover project

The EurDyscover consortium was established between the Champalimaud Foundation (Lisbon), the Santa Lucia Foundation (Rome), the Charité Hospital (Berlin), the University Hospital of Würzburg (Würzburg), the Charles University Faculty of Medicine (Prague) and the Hospital Pitié-Salpêtrière (Paris). The aim of this consortium is to understand the pathophysiological
mechanisms of dystonia, from molecules to brain circuits, study the progression of the disease and identify new biomarkers.
The subproject carried out at Champalimaud Foundation uses mouse models of dystonia to understand the underlying changes in motor circuits. Using inertial sensors and machine learning techniques, we are developing new ways to assess motor symptoms in these models. This assessment of movement is paired with the study of basal ganglia physiology to understand whether these may be more efficient therapeutic targets for the treatment of dystonia.