Brain Anatomy in Dystonia

This study has been terminated.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) ) Identifier:
First received: March 2, 2002
Last updated: March 11, 2015
Last verified: March 2015

This study will use high-resolution magnetic resonance imaging (MRI) to look for subtle differences in brain anatomy between patients with focal hand dystonia (also called writer s cramp) and healthy normal volunteers. Patients with hand dystonia have prolonged muscle contractions that cause sustained twisting movements and abnormal postures. These abnormal movements often occur with activities such as writing, typing, playing certain musical instruments such as guitar or piano, or playing golf or darts.

Patients with focal hand dystonia and healthy volunteers will be enrolled in this study. Patients will be recruited from NINDS s database of patients with focal hand dystonia. Volunteers will be selected to match the patients in age, sex and handedness.

This study involves two visits to the NIH Clinical Center. The first visit is a screening visit, in which patients and volunteers will have a medical history, physical examination, neurological examination, and assessment of handedness. Women of childbearing age will be screened with a pregnancy test. Pregnant women are exclude from this study.

Those who join the study will return for a second visit for magnetic resonance imaging. MRI uses a magnetic field and radio waves to produce images of the brain. For the procedure, the participant lies still on a stretcher that is moved into the scanner (a narrow cylinder containing the magnet). Earplugs are worn to muffle loud noises caused by electrical switching of radio frequency circuits used in the scanning process. The scan will last about 45 to 60 minutes, at most. Some volunteers may be asked to return for a third visit to obtain a second MRI on a different scanner.


Study Type: Observational
Official Title: In Vivo Mapping Of Structural and Biochemical Abnormalities In Patients With Primary Focal Dystonia

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Enrollment: 189
Study Start Date: February 2002
Estimated Study Completion Date: March 2015
Detailed Description:


The term, dystonia, is used to describe a syndrome characterized by prolonged muscle contractions causing sustained twisting movements and abnormal postures of the affected body part(s). Although no structural brain abnormalities have been definitively demonstrated in the visual inspection of MRI scans from patients with primary focal dystonia, there are several lines of evidence for subtle structural brain abnormalities at both the subcortical and cortical levels. We hypothesize that those abnormalities might be detected by using appropriate acquisition and analysis methods.

Study population

This research will be conducted using patients with primary focal dystonia and normal volunteers.


By using high-resolution 3D structural magnetic resonance imaging (MRI) of the brain and voxel-based morphometry (VBM), and diffusion tensor imaging (DTI) at 3 Tesla and high resolution anatomical images at 7 Tesla, we will detect structural changes in patients with primary focal dystonia in comparison with control subjects. VBM and DTI are methods implemented in the statistical parametric mapping software (SPM2). Magnetic resonance spectroscopy (MRS) will use special software to calculate gamma-aminobutyric acid (GABA) levels in a region of interest.

Outcome measures

VBM and DTI analysis in SPM2 will enable us to make a voxel-wise comparison of local concentration/volume of gray/white matter among these groups of subjects. This study can lead to an improved knowledge of the pathophysiology of primary hand dystonia can help to elucidate dystonia s pathogenesis/etiology and may lead to specific preventative or therapeutic approaches. The MRS study will enable us to study GABA levels in the sensory motor cortices, prefrontal cortex and basal ganglia in primary dystonia patients and normal subjects.


Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes

HEALTHY VOLUNTEERS: Healthy volunteers who consented to participate in the study and matched for age, sex, handedness with the group of patients with primary focal hand dystonia.

PATIENTS: Patient with primary focal dystonia from our dystonia patient database who consented to participate in the study. This criterion will be established by the preliminary screening in the Human Motor Control Outpatient Clinic.


The following subjects will be excluded:

Healthy volunteers with cognitive complaints, abnormal neurological exam or history of past neurological disease.

Dystonia patients with the presence of a second neurological disease or condition; abnormal neurological findings on exam that are not related to primary focal dystonia.

Subjects with past or present neuropsychiatric illness, head trauma with loss of consciousness, epilepsy, cerebro-vascular disease, migraine, past and present history of alcohol abuse, medical conditions that may alter cerebral structure.

Subjects with abnormal MRI findings at visual inspection (prominent normal variants such as mega cisterna or cavum septum pellucidum, signs of severe cortical or subcortical atrophy, brain tumors, vascular diseases, trauma or AVMs).

Subjects with any metallic objects within them just prior to MR imaging (cardiac or neural pacemaker, aneurysm clips [metal clips on the wall of a large artery], metallic prostheses [including heart valves and cochlear implants] or shrapnel fragments. Welders and metal workers are also at risk for injury and may not take part in the study because of possible small metal fragments in the eye of which they may be unaware.

Subjects not capable of giving an informed consent.

Women who are pregnant


  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00031369

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Mark Hallett, M.D. National Institute of Neurological Disorders and Stroke (NINDS)
  More Information

Responsible Party: National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) ) Identifier: NCT00031369     History of Changes
Other Study ID Numbers: 020132, 02-N-0132
Study First Received: March 2, 2002
Last Updated: March 11, 2015
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Writer's Cramp
Movement Disorder
Gray Matter
Brain Morphology
Focal Hand Dystonia
Healthy Volunteer
Normal Control

Additional relevant MeSH terms:
Dystonic Disorders
Central Nervous System Diseases
Movement Disorders
Nervous System Diseases
Neurologic Manifestations
Signs and Symptoms processed this record on October 02, 2015