Genetic Research

Although the specific cause of dystonia remains unknown, researchers have identified multiple forms of inheritable dystonia. At least fifteen chromosomal locations have been associated with various forms of dystonia. Chromosomal locations have been identified for Early-Onset Generalized Dystonia, Late Onset Focal Dystonia, Dopa-Responsive Dystonia, Myoclonus Dystonia, Paroxysmal Dystonia, X-Linked Dystonia-Parkinsonism (Lubag) and Rapid-Onset Dystonia-Parkinsonism to name a few.

Under the direction of Xandra O. Breakefield, Ph.D., researchers at Massachusetts General Hospital identified the DYT1 gene in 1997. A mutation, or change, in the DYT1 gene is associated with early-onset generalized dystonia. The DYT1 gene codes for a previously unknown protein, torsinA, which has significant similarities to heat-shock and chaperone proteins. The heat-shock proteins help cells recover from stresses including heat, traumatic injury, and chemical poisoning.

Prior to this discovery, no human disease had been associated with heat-shock proteins. Exactly how the abnormal gene causes early-onset generalized dystonia is presently unknown. Ongoing research in the laboratory of Dr. Breakefield focuses on understanding how changes in torsinA lead to dystonia and on identifying new genes involved in various forms of dystonia.

Support

It is important to acknowledge that dystonia research at Massachusetts General Hospital would not be possible without the generosity and support of individuals with dystonia and their families. The healthcare professionals in the MGH Dystonia Clinic, Dr. Breakefield’s research team and research collaborators take the contributions from these research study participants and work to translate them into dystonia advances.

Current Research Projects Looking for Volunteers

Disclaimer

Individuals and families who participate in research do so on a voluntary basis. Research participants have the right to withdraw from any research study at any time.

The Genetics of Dystonia

Do you have Dystonia? Are you related to someone with Dystonia? You are eligible to take part in a Massachusetts General Hospital research study about the genetics of dystonia.

The purpose of this research study is to find the genes and processes that cause dystonia.

During the study, researchers collect medical history information, family history information and a blood sample. Researchers get DNA from the blood sample. The DNA is kept for many years. Research genetic test results are NOT available to people who take part in the research study.

If you would like to learn more or take part in this research study, please contact the research coordinator at (617) 726-5470 or tmulthaupt@partners.org

Motor Learning Studies

Volunteers Needed for DYT1 Dystonia Research Study

Researchers at Massachusetts General Hospital are conducting a study to better understand how changes in the DYT1 gene affect the ability to learn specific movements.

This research study is open to any adult member of a family in which an individual has been found to carry a mutation or change in the DYT1 gene. Those who carry a change in the DYT1 gene (whether or not they have symptoms) as well as family members (who may or may not carry mutation in the DYT1 gene) are all eligible to participate.

This study’s procedures require a physical examination, videotaping, a blood draw, and a series of “motor learning” tests (similar to video games). The motor learning tests are non-invasive and will cause no discomfort. Participants also provide medical and family history information.

Participation requires traveling to Boston for appointments at Massachusetts General Hospital (MGH) and Massachusetts Institute of Technology (MIT). Participation requires at least one overnight stay in a hotel. The entire study can be completed in two and a half consecutive days. We help arrange transportation and hotel stays, if the participant comes from outside the Boston area. All participants who complete the study will receive $75. Though these studies aim to expand our understanding of DYT1 dystonia, there are no direct benefits to you for your participation, and you will not learn the results of your testing.

Because DYT1 dystonia is uncommon and success of this study depends on participation of members of DYT1 families, even if you do not have DYT1 dystonia, we ask your help in informing individuals with DYT1 dystonia of the opportunity to participate in this study.

If you are interested in learning more about participation in this research, please contact us. The Principal Investigator, Nutan Sharma, M.D., Ph.D., may be reached at (617) 724-9234. The Study Coordinator, Trisha Multhaupt, M.S., can be reached at (617) 726-5470 or tmulthaupt@partners.org.

Focal Dystonia: Genotype-Phenotype Correlation

Volunteers with focal dystonia needed for a research study at Massachusetts General Hospital

What is this research study about?

We want to find genes and/or brain characteristics that give us information to better predict, diagnose, or treat dystonia.

Who can take part in the research study?

You may qualify to take part in this research study if:

You are 18-75 years old
You were diagnosed by a neurologist with cervical dystonia (spasmodic torticollis) or hand dystonia (writer’s cramp)
Your dystonia is treated with
- Botulinum toxin injections only OR
- Botulinum toxin injections and standard dystonia medications OR
- Neither oral medications nor botulinum toxin injections (that is, NO drug treatment)
You are treated with botulinum toxin, you have had fewer than three sets of injections (that is, you began botulinum toxin treatment in the past 6 – 8 months)
You do not have other neurological or psychiatric conditions
You are not taking other “neuroactive” medications (such as antidepressants or ADHD medicine)

What would I have to do?

First, you would talk with the research study staff about the research study and consent process. If you qualify to take part, we will ask you to:

Give your medical and family history information
Have a physical exam
Give a blood sample
Fill out questionnaires
Have a brain imaging assessment (MRI) using learned tasks

During the brain imaging assessment, we take pictures or images of your brain using a magnetic resonance imaging (MRI) machine. You would have to lie still for about 2 hours during this part of the research study.

It would take you about 3 - 5 hours for each study visit. You would have one to four study visits. All study visits take place at MGH-East in the Charlestown Navy Yard.

What else do I need to know?

You would receive $100 when you complete the first study visit. You would receive $150 for additional study visits that you complete.

There are no direct benefits to you for taking part in this research study. You will not learn the results of your testing or MRI. Taking part in research is voluntary.

To learn more about or take part in this research study, please send an email with your contact information to DystoniaResearch@partners.org or call Trisha at (617) 726-5470.

Principal Investigator: Nutan Sharma, MD, PhD
Research Coordinator: Trisha Multhaupt-Buell, MS, CGC