Genetic Characterization of Movement Disorders

This study has suspended participant recruitment.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute on Aging (NIA) ) Identifier:
First received: December 12, 2013
Last updated: August 15, 2015
Last verified: May 2015


- There are two basic types of movement disorders. Some cause excessive movement, some cause slowness or lack of movement. Some of these are caused by mutations in genes. Researchers want to study the genes of families with a history of movement disorders. They hope to find a genetic cause of the disorders. This can help them better understand and treat the diseases. This study will not be limited to a particular disorder, but will study all movement disorders in general.


- To learn more about movement disorders, their causes, and treatments.


  • Adults and children with a movement disorder and their family members.
  • Healthy volunteers.


  • Participants will be screened with medical history and blood tests. Some will have physical exam.
  • Participants will give a blood sample by a needle in the arm. This can be done at the clinic, by their own doctor, or at home.
  • Participants can volunteer to have their blood sample sent for long-term study. Genetic test will be done on the samples. Participants identity will be kept separate from the sample. Participants can request to receive results of the tests.
  • Participants samples will be in the study for 5 10 years. Some participants will have long-term follow-up.


Study Type: Observational
Official Title: Genetic Characterization of Movement Disorders

Resource links provided by NLM:

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

Primary Outcome Measures:
  • Finding genetic cause of disease [ Time Frame: Ongoing ] [ Designated as safety issue: No ]

Estimated Enrollment: 5000
Study Start Date: February 2003
Estimated Study Completion Date: December 2016
Estimated Primary Completion Date: December 2016 (Final data collection date for primary outcome measure)
Detailed Description:

Movement disorders describe a group of neurological disorders that involve motor and movement systems. They can be classified into two basic categories: those characterized by disordered or excessive movement ("hyperkinesia" or "dyskinesia"), and those characterized by slowness, or a lack of movement ("hypokinesia," bradykinesia," or "akinesia")1. Movement disorders are the broad category of Neurologic diseases that include; ALS, ataxia, Corticobasal Degeneration, Dystonia, Essential Tremor, Hereditary Spastic Paraplegia, Huntington s Disease, Multiple System Atrophy, Myoclonus, Parkinson s Disease, Progressive Supranuclear Palsy, Restless Legs Syndrome, Rett Syndrome, Tourette Syndrome, Wilson s Disease, Inclusion body Myositis, and as yet undefined movement disorders. We propose to undertake a study aimed at further characterizing the genetic basis of movement disorders.

Several disease-causing mutations have been identified that are known to cause movement disorders, for example the spinocerebellar ataxia mutations, and mutations in alpha-synuclein, parkin, Tau, and torsinA genes. However there are numerous familial forms of movement disorders in which the gene defect has not been identified. The first aim of this protocol is to collect families with a history of movement disorder in an attempt to clone the causative gene. Our experience with the cloning of the Amyloid Precursor Protein mutations in Alzheimer s disease shows that this approach leads to a better understanding of the biochemical and physiological processes underlying the disease. By intentionally defining the diseases of interest as movement disorders rather than proposing to study a particular disease (eg dystonia) we are not limiting the proposed study to what is clearly one facet of myriad related disorders. For example dopa-responsive dystonia is known to present with a widely varying phenotype, Parkinson s disease in some, dystonia in others; additionally we have shown pure phenotypes of both ataxia and parkinsonism in different pedigrees with the same SCA mutations. Limiting ourselves to a specific diagnosis of pure Parkinson s disease for example, would not allow us to make this distinction.

It is clear there are numerous forms of movement disorders where disease does not appear to be inherited in a Mendelian manner. Whilst these may be caused by environmental effects it is also reasonable to hypothesize that disease may be caused by complex genetic interactions. Furthermore the susceptibility to environmental influence may be affected by genetic predisposition. As a second aim in this protocol we will investigate the association between genetic polymorphisms and movement disorders. This will be performed by a candidate gene approach, assessing the contribution of genes already associated with familial forms of disease and likely candidates (for example involved in dopaminergic pathway). Although significant association does not imply a causal relationship between the presence of the variant and disease, the pathophysiologic significance should be studied further. The inevitable problem of false positives within this type of analysis is a real one, which may be addressed by independent replications and tightly controlled experiments. Undeniably the analytical effort needed to differentiate positives from false positives is considerable, and as can be readily seen in other disorders such as Alzheimer s disease, the literature is scattered with positive associations and subsequent refutations. However, it is important that research groups continue to identify and replicate these studies.


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

Previous diagnosis of Movement Disorder by neurologist, other medical care provider, or researcher accompainied by sufficient clinical and/or laboratory evidence.

Clinical confirmation of Movement Disorder by investigator and his associates either by exam and/or review of medical records.

Family member of diagnosed movement disorder patient.

Healthy controls


Individuals with any movement disorder secondary to a specific environmental exposure, birth injury, metabolic disorder, or brain infection such as encephalitis.

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Please refer to this study by its identifier: NCT02014246

United States, Maryland
National Institute of Aging, Clinical Research Unit
Baltimore, Maryland, United States, 21224
Sponsors and Collaborators
National Institute on Aging (NIA)
Principal Investigator: Bryan J Traynor, M.D. National Institute on Aging (NIA)
  More Information

No publications provided

Responsible Party: National Institutes of Health Clinical Center (CC) ( National Institute on Aging (NIA) ) Identifier: NCT02014246     History of Changes
Other Study ID Numbers: 999903329, 03-AG-N329
Study First Received: December 12, 2013
Last Updated: August 15, 2015
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Movement Disorders
Lymphoblast Cell Lines

Additional relevant MeSH terms:
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases processed this record on October 09, 2015