Deep Brain Stimulation in a Patient with Dystonia-Parkinsonism Secondary to a c.609G>A PLA2G6-Associated Neurodegeneration Variant
Objective: To describe a rare likely pathogenic variant of the PLA2G6 protein and its response to deep brain stimulation (DBS). Background: PLA2G6-associated neurodegeneration (PLAN) can…Paroxysmal Post-Traumatic Dystonia in Patients with Whiplash and Mild Traumatic Brain Injuries
Objective: To study the dystonic symptoms in patients with mild traumatic brain injury (mTBI) and whiplash injuries with or without compensation claims. Background: Dystonia may…The Vodka Trial: Clinical and Genetic Characteristics of Alcohol Responsiveness in Laryngeal Dystonia
Objective: To determine the objective characteristics of alcohol responsiveness in laryngeal dystonia (LD) using a standardized alcohol challenge test and genetic testing. Background: LD is…The Cholinergic System in Cervical Dystonia – An [18F]-FEOBV PET study
Objective: To investigate presynaptic cholinergic functioning in cervical dystonia (CD) by comparing [18F]-FEOBV binding in patients and controls, as well as exploring correlations with motor…Preservation of Putamen Volume with Aging in Cervical Dystonia, not other focal dystonia subtypes: A Cross-Sectional Neuroimaging Study
Objective: To investigate whether focal dystonia is associated with altered structural age-related changes in the putamen compared to healthy controls and across dystonia subtypes. Background:…Response to Bilateral GPi DBS in a Patient with DYT30
Objective: To describe the response of dystonia to deep brain stimulation (DBS) of the globus pallidus interna (GPi) in a patient with generalized dystonia due…Temporomandibular Joint Balancing Therapy for Cervical Dystonia: A Retrospective Study
Objective: Cervical dystonia lacks disease-modifying treatment, with therapies mainly providing symptom relief. Temporomandibular Joint Balancing Therapy (TBT) addresses TMJ-related postural issues and may improve symptoms.…Observations and Strategies for Improving Recruitment and Retention of Underrepresented Populations in Movement Disorders Clinical Research Trials Conducted in a Tertiary Research Site
Objective: To observe the improvement in one tertiary clinical site of the recruitment of underrepresented populations with a focus on the Asian demographic and note…Lighting the Torch: Dating the Most Common Recent Ancestor of the PINK1 p.L347P Variant Linked to Parkinson’s Disease in Pacific Populations
Objective: To determine the generational age of the most recent common ancestor (MRCA) of patients homozygous for PINK1 p.L347P, to 1) Test the hypothesis that…Challenges in Diagnosing and Managing Multiple System Atrophy in Low-Resource Settings: Insights from Nepal
Objective: This study aims to explore the diagnostic and therapeutic challenges faced in the management of Multiple System Atrophy (MSA) in low-resource settings, focusing on…
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