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.
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.
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.
Clinical Outcomes for Deep Brain Stimulation
Parkinson DiseaseEssential Tremor1 moreThe object of this study is to longitudinally collect clinical outcomes of patients receiving deep brain stimulation for movement disorders with the objective of making retrospective comparisons and tracking of risks, benefits, and complications.
Deep Brain Stimulation for Laryngeal Dystonia: From Mechanism to Optimal Application
Laryngeal DystoniaAdductor Spastic Dysphonia of DystoniaDeep Brain Stimulation (DBS) is a neurosurgical procedure used to treat tremors, and dystonia. This study will enroll people who have a form of focal dystonia that affects their vocal cords called Adductor Laryngeal dystonia (ADLD). Participants will undergo Deep Brain Stimulation surgery to treat laryngeal dystonia as part of their clinical care. Before surgery, as part of the study they will have specialized testing to study the movement of the vocal cords, as well as functional magnetic resonance imaging (fMRI). While in the operating room, researchers will examine brain waves to better understand how faulty brain firing patterns lead to dystonia. After surgery, and activation of the deep brain stimulator, participants will repeat speech testing and vocal cord imaging as well as magnetic resonance imaging (MRI).
Imaging Genetics of Laryngeal Dystonia
Laryngeal DystoniaUnaffected Relatives of Laryngeal Dystonia Patients2 moreThe contribution of genetic risk factors to the development of focal dystonias is evident. However, understanding of how variations in the causative gene expression lead to variations in brain abnormalities in different phenotypes of dystonia (e.g., familial, sporadic) remains limited. The research program of the investigators is set to determine the relationship between brain changes and genetic risk factors in laryngeal dystonia (or spasmodic dysphonia). The researchers use a novel approach of combined imaging genetics, next-generation DNA sequencing, and clinical-behavioral testing. The use of a cross-disciplinary approach as a tool for the discovery of the mediating neural mechanisms that bridge the gap from DNA sequence to the pathophysiology of dystonia holds a promise for the understanding of the mechanistic aspects of brain function affected by risk gene variants, which can be used reliably for the discovery of associated genes and neural integrity markers for this disorder. The expected outcome of this study may lead to better clinical management of this disorder, including its improved detection, accurate diagnosis, and assessment of the risk of developing dystonia in family members.