Active clinical trials for "Dystonia"

This study will examine how the brain controls speech in patients with spasmodic dysphonia, a voice disorder that involves involuntary spasms of muscles in the larynx (voice box), causing breaks in speech. Although the causes of spasmodic dysphonia are unknown, recent studies found changes in brain function in patients with the disorder that may play a role in its development. People between 21 and 80 years of age with adductor spasmodic dysphonia may be eligible for this study. Candidates are screened with the following procedures: Medical history and physical examination. Nasolaryngoscopy to examine the larynx. For this test, the inside of the subject s nose is sprayed with a decongestant and a small, flexible tube called a nasolaryngoscope is passed through the nose to the back of the throat to allow examination of the larynx. The subject may be asked to talk, sing, whistle and say prolonged vowels during the procedure. The nasolaryngoscope is connected to a camera that records the movement of the vocal cords during these tasks. Voice and speech recording to measure the type and severity of voice disorder. Subjects are asked questions about their voice disorder and their voice is recorded while they repeat sentences and sounds. Participants undergo positron emission tomography (PET) and magnetic resonance imaging (MRI) of the brain, as follows: PET: A catheter is placed in a vein in the subject s arm to inject a radioactive substance called a tracer that is detected by the PET scanner and provides information on brain function. [11C]flumazenil is used in one scanning session and [11C]raclopride is used in another. For the scan, the subject lies on a bed that slides in and out of the doughnut-shaped scanner, wearing a custom-molded mask to support the head and prevent it from moving during the scan. For the first scan the subject lies quietly for 60 minutes. For the second scan, the subject lies quietly for 50 minutes and is then asked to say sentences during another 50 minutes. The amount of radiation received in this study equals to a uniform whole-body exposure of 0.9 rem, which is within the dose guideline established by the NIH Radiation Safety Committee for research subjects. The guideline is an effective dose of 5 rem received per year. MRI: This procedure uses a strong magnetic field and radio waves instead of X-rays to obtain images of the brain. The subject lies on a table that slides into the scanner, a narrow metal cylinder, wearing ear plugs to muffle loud knocking sounds that occur during the scan. Images of the brain structure are obtained while the subject lies still in the machine for 10 minutes. This is followed by functional MRI (fMRI) for 60 minutes, in which pictures are taken while the subject speaks, showing changes in brain regions that are involved in speech production.

The main goal of the GENEPARK consortium is to employ innovative haemogenomic approaches to determine gene expression profiles specific for genetic and idiopathic Parkinson's disease (PD) patients. These gene expression signatures will be utilised clinically as non-invasive diagnostic tests for PD. The sensitivity of the newly developed diagnostic test will be determined by extensive validations on an independent cohort of PD patients, whereas the specificity will be assessed by testing patients with atypical parkinsonisms, including multiple system atrophy, progressive supranuclear palsy and diffuse Lewy body disease. In order to test the specificity of the diagnostic set in other disorders that affect basal ganglia, Huntington's disease and dopa responsive dystonia patients will be analysed. The second objective of the proposal is to determine correlations between gene expression signatures and different stages of PD and thus provide the basis for early diagnosis and monitoring of disease progression. These changes in blood gene expression will be correlated with alterations detected by neuroimaging in the brain of PD patients. Such combinations of molecular and morphological markers of disease may ultimately facilitate the selection and monitoring of neuroprotective therapies for PD. Finally, GENEPARK aims to develop new bioinformatic software tools for selection of genomic biomarkers using microarray data. A set of established computational tools will be applied and novel methods, some of them based on mechanistic modelling of the neurodegenerative diseases, will be developed in order to study the advantages and limitations of the different methodologies. With special emphasis on the careful clinical selection of patients and sufficient power regarding patient numbers, as well as extensive quality control and validation of the data, GENEPARK aims to develop a standardised approach to development and validation of haemogenomic biomarkers of disease.

The purpose of this research study is to determine the physical brain changes in people with cervical dystonia after deep brain stimulation (DBS) surgery and as compared to healthy controls. We will do this by measuring your body's response to transcranial magnetic stimulation (TMS) before and/or after DBS surgery. TMS is a non-invasive procedure during which you sit in a chair that looks like one you would find at the dentist's office. A nerve stimulator is placed on the wrist of the right hand to stimulate the median nerve; the intensity of the nerve stimulator is gradually increased until the right thumb begins to twitch. A magnetic coil is placed on the scalp on one side of the head, overlying the brain's motor cortex, to stimulate the brain's output to the muscles in the opposite hand. If you are a control subject, and therefore will not/have not have DBS surgery, we will measure the body's response to TMS for comparison purposes. We expect that the electrical differences in the brain may be related to the physical benefits some patients with primary cervical dystonia receive from DBS surgery.

This study will examine how the brain makes involuntary spasms and contractions in patients with focal hand dystonia (FHD). Patients with dystonia have muscle spasms that cause uncontrolled twisting and repetitive movement or abnormal postures. In FHD, only the hand is involved. The study will use functional magnetic resonance imaging (fMRI, see below) to study which areas of the brain are primarily affected in FHD and better understand how brain changes produce dystonia symptoms. Normal right-handed volunteers and patients with FHD who are 18-65 years of age may be eligible for this study. Candidates are screened with a medical history and physical and neurological examinations. Women who can become pregnant have a urine pregnancy test. All participants undergo fMRI. This test uses a strong magnetic field and radio waves to obtain images of body organs and tissues. The subject lies on a table that is moved into the scanner (a metal cylinder), wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process. The procedure lasts about 90 minutes, during which time the patient is asked to lie still for 10-15 minutes at a time. During the procedure, subjects are asked to perform some tasks, including writing, tapping with their hand, and drawing in a zigzag motion. Each task is performed using the right hand, left hand and right foot.

This study will use transcranial magnetic stimulation, or TMS (described below), to examine how the brain controls muscle movement to prevent unwanted movements in surrounding muscles. For example, when a person moves a finger, a part of the brain called the cortex prevents unwanted movements in other fingers by a process called cortical inhibition. In people with the muscle disorder dystonia, cortical inhibition does not work properly and patients suffer from uncontrolled and sometimes painful movements. A better understanding of how this process works in normal people may shed light on what goes wrong in dystonia and how the condition can be treated. Healthy normal volunteers 19 years of age and older may be eligible for this study. Candidates will be screened with a medical history and physical and neurological examinations. People with a current medical or surgical condition or neurological or psychiatric illness may not participate, nor may individuals who are taking medication that may influence nervous system function. Participants will undergo TMS to record the electrical activity of muscles in the hand and arm that are activated by magnetic stimulation. For the procedure, subjects are seated in a chair with their hands placed on a pillow in their laps. A wire coil in placed on their scalps. A brief electrical current is passed through the coil, creating a magnetic pulse that stimulates the brain. Subjects will be asked to move their second finger in response to a loud beep or visual cue. In some trials, a brief, mild electrical shock will also be applied to the end of either the second or fifth finger. The shock is not painful. TMS may cause muscle, hand or arm twitching if the coil is near the part of the brain that controls movement, or it may induce twitches or temporary tingling in the forearm, head, or face muscles. The twitching may cause mild discomfort, but the procedure is rarely considered painful.

This study will examine the role of certain areas of the brain in blepharospasm, a type of dystonia (abnormality of movement and muscle tone) that causes unwanted or uncontrollable blinking or closing of the eyelids. The study will compare brain activity in healthy volunteers and in people with blepharospasm to find differences in the brain that may lead to better treatments for dystonia. Healthy volunteers and people with blepharospasm who are 18 years of age and older may be eligible for this study. All candidates are screened with a medical history. People with blepharospasm also have a physical examination and blepharospasm rating. Participants undergo transcranial magnetic stimulation (TMS) and electromyography (EMG) in two 4-hour sessions, separated by 1 to 7 days. TMS A wire coil is held on the subject s scalp. A brief electrical current is passed through the coil, creating a magnetic pulse that stimulates the brain. The subject hears a click and may feel a pulling sensation on the skin under the coil. There may be a twitch in muscles of the face, arm or leg. During the stimulation, subjects may be asked to tense certain muscles slightly or perform other simple actions. Repetitive TMS involves repeated magnetic pulses delivered in short bursts of impulses. Subjects receive 60 pulses per minute over 15 minutes. EMG Surface EMG is done during TMS to measure the electrical activity of muscles. For this test, electrodes (small metal disks) are filled with a conductive gel and taped to the skin of the face.

Background: - New studies in human genetics have revealed information about genetic connections to memory and motor behavior. Researchers are interested in investigating the role of genetics in motor learning, in conjunction with related studies taking place in the Human Motor Control Section of the National Institute of Neurological Diseases and Stroke (NINDS). Participants in motor learning studies conducted at NINDS will be asked to provide blood samples for further evaluation. Objectives: - To create a repository of blood samples from patients and healthy subjects who are participating in NINDS motor learning studies. Eligibility: - Individuals between 18 and 100 years of age who are or will be participating in motor learning research studies at the National Institutes of Health. Design: Blood draws for genetic testing will usually be done on the same day as the motor learning study. Participants will provide one blood sample for research. No treatment will be provided under this study....

Dystonia is a disorder characterized by excessive involuntary contraction of muscles with repetitive and patterned movements. The primary focal dystonias are the most common type of dystonia and include Limb dystonias (like writer's cramp), Cervical dystonia (spasmodic torticollis), Laryngeal dystonias (like spasmodic dysphonia), and Craniofacial dystonias (like blepharospasm). The purpose of this study is to create resources to help learn more about the primary focal dystonias and to develop and validate various dystonia rating scales.

Writer's cramp (WC) is a task specific dystonia that occurs from the moment patient starts writing. It leads to partial or complete inability to use the hand only during the handwriting gesture. It is characterized by the appearance of cramps or spasms of certain muscles of the hand and/or forearm. Clinical scales currently use for the assessment of WC fail to accurately reflect changes in the characteristics of handwriting in response to treatments (Botulinum Neurotoxin injections and / or retraining therapy). The Zigzag Tracking Task (ZZTT), easy to use in current practice provides useful information in terms of speed and precision of handwriting gesture. This timed handwriting test is to follow with a pen a zigzag path beset with obstacles to avoid. It permits to evaluate the time in seconds required to carry out the zigzag path and count the number of errors (output path and contacts with obstacles). The investigators propose to validate the ZZTT for the assessment of the handwriting gesture of WC.

Purpose - Objective : Sensorimotor adaptation allows the modification of the motor command taking into account the errors detected during execution of prior movements. It involves a large cortico-subcortical network. Isolated lesions of this network do not systematically alter sensorimotor adaptation except for cerebellar lesions. The cerebellum is thus a key structure for sensorimotor adaptation. However, the link between cerebellar and the cortical plasticity underlying sensorimotor adaptation remain unknown. Alteration of sensorimotor adaptation is associated with dystonia but it is unclear whether it is a cause or consequence of dystonia. It has been hypothesized that the abnormal plasticity observed in dystonia could account for the associated alteration of sensorimotor adaptation. Classically, basal ganglia dysfunction is considered to be crucial for dystonia pathogenesis. However, recent studies suggest that the involvement of the cerebellum may also be important in this setting. In primary dystonia, imaging studies showed abnormal cerebellar activation during sensorimotor adaptation tasks and neurophysiological studies demonstrated a decrease of cerebellar output. The aim of this study is to investigate the role of the cerebellum in the cortical plasticity underlying sensorimotor adaptation both in healthy subjects (normal plasticity) and in dystonic patients (abnormal plasticity). - Methods: Paired associative stimulation PAS consists in repetitive pairing of a peripheral nerve and a cortical stimulation. This kind of stimulation has been designed to induce artificial plasticity that can be easily measured. This PAS induced sensorimotor plasticity is exacerbated and has lost its topographical specificity in dystonic patients.TMS using trains of TMS pulses (rTMS) can be applied on the cerebellum to modulate its output. We will test the effect of rTMS induced modulation (cTBS- inhibitory, iTBS-excitatory, sham) of the cerebellar output on PAS induced plasticity in patients with dystonia and healthy control. We will also assess the acute effect of the rTMS induced modulation of the cerebellar output on the dystonic symptoms and on the performance at a validated sensorimotor adaptation task. This will be done by double blind post-hoc scoring of the dystonia (BFM or TWSTRS) on standardized videorecording and measurement of the performance at the task after each rTMS session (cTBS, iTBS, sham). Finally, we will assess the variation of PAS effect on other parameters reflecting cortical excitability after each rTMS session (cTBS, iTBS, sham).