Bilateral Globus Pallidum interna stimulation for Blepharospasm
Objective: Deep brain stimulation (DBS) of the Globus Pallidus Interna (GPi) is performed for treatment of medically intractable dystonia, including primary generalized dystonia, myoclonic dystonia,…Myoclonus-Dystonia Syndrome Due to a Novel Mutation in the Epsilon-Sarcoglycan (SGCE) Gene
Objective: To present a case report of a patient with myoclonus-dystonia in whom a mutation in the epsilon-sarcoglycan gene which has not been previously described,…Structural network fingerprints for GPI-DBS in dystonia
Objective: Here, we investigate whether patients who respond to GPi-DBS present different brain global and local network organization and structural MRI fingerprints as derived from…Dystonic storm with a change of stimulation from constant voltage to constant current
Objective: Deep brain stimulation (DBS) is a FDA approved treatment for dystonia. Medtronic pulse generator (IPG), constant voltage (CV) stimulation and Boston Scientific generator, constant…GNAO1 gene mutation: generalized dystonia without epilepsy.
Objective: GNAO1 gene mutation is considered in the differential diagnosis of early onset epileptic encephalopathies (EOEE) with movement disorders. De novo GNAO1 mutations were first…Alternating bilateral deep brain stimulation in the internal pallidum and subthalamic nucleus in isolated segmental dystonia: a case report
Objective: To present a patient with segmental dystonia and sequential bilateral deep brain stimulation (DBS) in the internal pallidum (GPi) and the subthalamic nucleus (STN).…RDP is associated with bulbar and limb weakness: broadening the phenotype of ATP1A3+ Rapid-Onset Dystonia-Parkinsonism (RDP)
Objective: To describe a new finding of weakness associated with RDP. Background: RDP is caused by mutations of the ATP1A3 gene. The phenotype of RDP…Quantitative assessments better delineate rare disease: reconsidering the diagnostic criteria in ATP1A3+ Rapid-Onset Dystonia-Parkinsonism (RDP)
Objective: To revise diagnostic criteria for RDP based on a cohort of ATP1A3 mutation+ individuals. Background: RDP is caused by mutations of the ATP1A3 gene.…Clinical and genetic characteristics of a new mutation causing Segawa´s disease in a Spanish kindred
Objective: To describe the clinical phenotype and genetic characteristics of a novel mutation causing Segawa´s disease in a Spanish family. Background: Dopa-Responsive Dystonia (DRD) is…Smell and taste in cervical dystonia: a contribution to understand dystonia pathophysiology.
Objective: To contribute to the better understanding of the pathophysiology of cervical dystonia (CD) we systematically assessed olfactory and gustatory functioning in CD subjects and…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.