Long-term Outcome of DBS Versus Botulinum Toxin Treatment in Cervical Dystonia
Cervical DystoniaCervical dystonia (CD) is the most common isolated dystonia in adults. Cervical dystonia symptoms can in most patients be managed well by botulinum toxin (BTX) injections, and supporting treatment measures. However, one-fifth to one-third of patients do not obtain sufficient relief from long-term BTX therapy, resulting in reduced quality of life. Deep brain stimulation (DBS) is a treatment method in which electrodes are surgically implanted permanently in the brain to modulate brain networks and function. In cervical dystonia, DBS of the postero-ventral part of the internal globus pallidus (GPi-DBS) has been established as an effective treatment for severe cases. However, the outcome of GPi-DBS in cervical dystonia has been reported mostly in some smaller series with up to 3 years follow-up. Thus, there is a lack of documentation of outcome of GPi-DBS in CD beyond 3 years of treatment and in larger patient materials. In this study the investigators will perform a long-term follow-up study of patients who were operated with a DBS-device targeting the GPi bilaterally, and who have been treated with chronic GPi-DBS for a minimum of 3 years. The investigators will measure the severity of symptom burden and quality of life with validated rating scales. The investigators will compare this DBS-treated cohort with an age- and gender matched group of CD patients who are receiving the standard treatment with botulinum neurotoxin (BoNT) injections and have been treated for at least 3 years as well. The investigators hypothesize that the DBS-treated group will have a significantly lower burden of symptoms at long-term follow-up than the BoNT treated group.
Registry of Deep Brain Stimulation With the VERCISE™ System for Treatment of Dystonia: Vercise DBS...
DystoniaTo compile characteristics of real-world outcomes of Boston Scientific Corporation's commercially approved VerciseTM Deep Brain Stimulation (DBS) Systems for the treatment of dystonia.
Deep Brain Stimulation (DBS) Retrospective Outcomes Study
Parkinson DiseaseEssential Tremor1 moreThe primary objective of this study is to characterize real-world clinical outcomes of Deep Brain Stimulation (DBS) using retrospective review of de-identified patient records.
Using Wearable and Mobile Data to Diagnose and Monitor Movement Disorders
Essential TremorParkinson Disease5 moreThe purpose of the research is to better understand the motor behavior of individuals in health and disease. The specific purpose of this project is to identify if we can utilize a smartphone to diagnose different movement disorders and monitor their symptoms. A. Objectives Estimate symptom severity of Essential tremor (ET), Parkinson's disease (PD), Huntington's disease (HD), Primary focal dystonia (PFD), spinocerebellar ataxia (SCA), and Functional movement disorders (FMD) using a smartphone-based application Differentiate individuals with the different movement disorders from healthy controls based on features from the smartphone data Differentiate individuals with a specific movement disorder from people with other movement disorders based on features from the smartphone data B. Hypotheses / Research Question(s) We hypothesize that we can estimate the severity of symptoms using a smartphone application and that, using those estimates, we can differentiate individuals with movement disorders from healthy controls and from people with other movement disorders.
Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other...
DystoniaParkinsonismThe purposes of this study are to identify persons with rapid-onset dystonia-parkinsonism (RDP) or mutations of the RDP gene, document prevalence of the disease, and map its natural history.
Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene
Autism Spectrum DisorderMovement Disorders3 moreThis protocol serves as a data collection tool for individuals with variants (missense, nonsense, frameshifts) in the IRF2BPL gene (MIM 611720), which causes Neurodevelopmental Regression, Seizures, Autism and Developmental Delay (NEDAMSS, MIM 618088) and may be involved in other neurodevelopmental presentations. This information will be analyzed to develop a better understanding of the findings and progression of symptoms in individuals with variants in the IRF2BPL gene.
Description of the Evolution of Functional Dysphonia Managed by Hypnotherapy
Functional Dystonia (Disorder)HYPNODYS is a single-center study evaluating the evolution of perceived voice-related disability before and after 3 standardized hypnosis sessions in patients with functional dysphonia.
Physiological Brain Atlas Development
Parkinson's DiseaseObsessive Compulsive Disorder3 moreThe NIH grant has funded the development of a physiological brain atlas registry that will allow us to significantly improve the data collectioin and use of physiological data into a normalized brain volume. This initially was used to improve DBS implants for Parkinson's Disease, Dystonia, Essential Tremor, and OCD, but now includes data acquired during all stereotactic brain procedures.
Cortical Silent Period in Laryngeal Dystonia
Laryngeal DystoniaSpasmodic DysphoniaThe goal of this observational study is to evaluate the cortical silent period (cSP) in cricothyroid muscle (CT) in laryngeal dystonia and control healthy subjects. The study will provide norms related to latency and amplitude of motor evoked potentials (MEPs) and duration of cSP in CT muscle in laryngeal dystonia and control healthy subjects. Findings may give a baseline in comparison to findings in laryngeal diseases and insight into maladaptive cortical control function during phonation in laryngeal diseases like laryngeal dystonia.
DBS and Sleep Outcomes
Deep Brain StimulationParkinson's Disease and Parkinsonism1 moreThe objective of this study is to describe how activation of distinct pathways in and around the subthalamic nucleus (STN) and internal segment of the globus pallidus (GPi) correlate to changes in sleep outcomes in movement disorders patients after deep brain stimulation (DBS) surgery targeting these structures.