The dystonias comprise a heterogeneous group of incurable movement disorders with variable age of onset, body distribution, and genetic background sharing the core clinical features of twisting, repetitive movements or abnormal postures. There is a pressing clinical need for better therapies in dystonias, which cause lifelong disability, often in children and young adults.
The consortium will combine human clinical and experimental animal research including cutting edge technologies such as iPS cell (induced pluripotent stem cells) characterization from human patients to describe the entire disease path of dystonia from a molecular level to brain network abnormalities. This coherent view is expected to boost our understanding of these model circuitry disorders of the brain and to open up new avenues for better treatment of persons with dystonia. Patients will immediately benefit from this consortium through standardizing the diagnosis and treatment approach to dystonia and establishing a reference database for all groups involved in dystonia care.
The consortium aims are:
- elucidate disease mechanisms and identify possible biomarkers and drug targets
- understand environmental factors
- understand mechanisms of compensation in nonmanifesting mutation carriers
- explore phenotypic variability and frequency of mutations in known dystonia genes
- define endophenotypes using neuroimaging or electrophysiology
- identify novel disease genes
- identify common final pathophysiological pathways of dystonic motor symptoms
- compare the efficacy of botulinum toxin injection and deep brain stimulation in controlling dystonia-related disability