Disease Modeling of Lesch-Nyhan Disease Using Induced Pluripotent Stem Cells
Objective: To create a resource of induced pluripotent stem cells (iPSCs) as models for exploring mechanisms of pathogenesis in Lesch-Nyhan disease (LND). Background: LND is…Effect of multiple sessions of transcranial direct current stimulation in Writer’s cramp: Does it hold promise?
Objective: To assess the effect of 5 days of transcranial direct current stimulation (tDCS) on spiral drawing in Writer’s Cramp patients. Background: Writer’s cramp (WC)…Striatum of the ouabain-induced pharmacological DYT12 mouse model is affected by structural and metabolic abnormalities
Objective: To study changes in neuronal morphology and neurotransmitter metabolism in the striatum of a pharmacological DYT12 mouse model after induction of a dystonic phenotype…A machine learning approach to determine the important patient characteristics for tremor prevalence and tremor irregularity in dystonia
Objective: To evaluate the importance of dystonia features that can predict concurrent tremor prevalence and tremor irregularity. (2) To cluster dystonia cases based on important…Predictors of alcohol responsiveness in dystonia
Objective: To determine predictors of alcohol responsiveness in a large cohort of dystonia patients (Dystonia Coalition Cohort). Background: A notable proportion of dystonia patients show…Neuropathology of dopa-responsive dystonia due to Tyrosine hydroxylase deficiency
Objective: To describe detailed neuropathology findings from an autopsy case of dopa-responsive dystonia (DRD) with genetically confirmed tyrosine hydroxylase deficiency (THD). Background: DRD comprises a…Toward an automated, video-based method to measure motor severity in cervical dystonia
Objective: The objective of this study was to compare options for machine learning-based video analysis software for measuring motor severity in cervical dystonia (CD). Background:…Reliability and Feasibility of Telemedicine Evaluation of Cervical Dystonia
Objective: Determine reliability and feasibility of telemedicine evaluation of Cervical Dystonia (CD). Background: Many CD patients receiving botulinum toxin (BoNT) injections are not able to…Paroxysmal kinesigenic dyskinesia successfully treated with lamotrigine –description of 2 cases
Objective: To present 2 cases of our patients with paroxysmal kinesigenic dyskinesias (PKD) , who had intolerance or ineffectiveness of carbamazepine (CBZ), and presented good…Radiofrequency pallidotomy for Embouchure dystonia
Objective: To investigate efficacy of pallidotomy for embouchure dystonia Background: Complex and fine adjustments of perioral muscles, regulating airflow into the mouthpiece, known as embouchure,…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.