Revitalizing Lives: The Dystonia Care Rehabilitation Program
Objective: The Cervical Dystonia Care Program aims to enhance engagement in task-specific performance, improve quality of life, activity tolerance, and facilitate a return to higher…Longitudinal Assessment of Dystonic Symptoms in Rapid-Onset Dystonia-Parkinsonism: genetic dystonia symptoms vary over time
Objective: To clarify the temporal progression of symptoms in the rare genetic dystonia, ATP1A3 disease Background: The ATP1A3 gene encodes the neuronally ubiquitous α3 subunit…Rapidly progressive fatal dystonia in an adult.
Objective: Here we report an interesting case of a young boy who presented to us with rapidly progressive febrile encephalopathy who developed a generalized dystonia,…Pathological neuronal Oscillations in an animal model of Rapid-Onset Dystonia-Parkinsonism
Objective: The aim of our study was to investigate neuronal network activity in the basal ganglia (BG) and cerebellum (CB) in Rapid-Onset Dystonia-Parkinsonism (RDP). Background:…Cerebellar sodium disequilibrium in a patient with ATP1A3-related rapid onset dystonia-parkinsonism
Objective: Here, we applied non-invasive 23Na Magnetic Resonance Imaging to study pathophysiology-related changes in the total and intracellular sodium content in a patient with rapid-onset…Deep Brain Stimulation using Asymmetrical Targets in Rapid-onset Dystonia Parkinsonism (RDP)
Objective: We report our experience with deep brain stimulation (DBS) using asymmetrical targets in the right and left hemispheres for the treatment of dystonia in…Paroxysmal asymmetric dystonic arm posturing – a less recognised but characteristic manifestation of ATP1A3-related disease
Objective: To highlight a less recognised but characteristic manifestation of ATP1A3-related disease. Background: ATP1A3 mutations cause a wide clinical spectrum, and are one of the…Auditory-Perceptual Voice and Speech Evaluation in ATP1A3-positive Patients
Objective: To characterize speech and voice dysfunctions in ATP1A3 mutation positive individuals compared to concurrent mutation negative family controls. Background: Bulbar symptoms are frequent in…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.…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.