Phenotype/Genotype Correlations in Movement Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2015 by National Institutes of Health Clinical Center (CC)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) ) Identifier:
First received: July 7, 2001
Last updated: October 2, 2015
Last verified: September 2015

The goal of this protocol is to identify families with inherited movement disorders and evaluate disease manifestations to establish an accurate clinical diagnosis by using newest technological advances and investigate the underlying molecular mechanisms. Studies of inherited movement disorders in large families with good genealogical records are especially valuable. Patients with diseases of known molecular basis will be genotyped in order to investigate phenotype/genotype correlation. Patients with disease of unknown or incomplete genetic characterization will be studied with a hope of contributing to the identification of specific disease-causing genes and genetic mechanisms responsible for a specific disorder.

Movement Disorder

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Phenotype/Genotype Correlations in Movement Disorders

Resource links provided by NLM:

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

Primary Outcome Measures:
  • Correlation between the genotype and phenotype in movement disorders. [ Time Frame: 10 Years ] [ Designated as safety issue: No ]

Estimated Enrollment: 1500
Study Start Date: July 2001
Detailed Description:


The goal of this protocol is to identify families with inherited movement disorders and evaluate disease manifestations to establish an accurate clinical diagnosis, and to investigate the underlying molecular mechanisms. Studies of inherited movement disorders in large families with good genealogical records are especially valuable.

Additionally, we plan to screen subjects with and without Parkinson's disease for the presence of revelant antibodies, such as antibodies targeting tobacco mosaic virus antigens which may have a protective role against the development of the disease or may be related to other pathophysiologic mechanisms.

We will also assess a series of exploratory peripheral blood biomarkers, including, but not limited to, those delineated by DNA, RNA, protein, and/or metabolite alterations in an effort to more accurately predict those with, or at risk of having, the specific neurological disease. Finally, we will seek to validate the NIH Toolbox Odor Identification Test (NIHOIT) against the standard University of Pennsylvania Smell Identification Test (UPSIT) in patients with Parkinson's Disease.

Study population

Subjects older than 2 years old with movement disorders and their family members will be enrolled. Patients with diseases of known molecular basis will be genotyped in order to investigate phenotype/genotype correlation. Patients with disease of unknown or incomplete genetic characterization will be studied with a hope of contributing to the identification of specific disease causing genes and genetic mechanisms and/or peripheral biosignatures involved in a particular disorder.


Eligible participants will have an initial medical and/or neurological evaluation at the Clinical Center or in the field, including blood draw for genetic and other biomarker testing.

Outcome measures:

Determination of phenotype/genotype correlations in specific movement disorders, gene identification if not known, gene expression and protein and metabolite levels, and presence of antibodies in Parkinson's disease and establishment of a clinical diagnosis when possible.


Ages Eligible for Study:   2 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Individuals with known or suspected inherited movement disorders.

Family members of movement disorders patients


Pregnant women will be excluded from MRI or X-ray studies

Children less than 2 years of age

Those who cannot provide their own consent or appoint a Durable Power of Attorney (DPA)

  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: NCT00018889

Contact: Elaine P Considine, R.N. (301) 435-8518
Contact: Codrin I Lungu, M.D. (301) 402-0976

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Codrin I Lungu, M.D. National Institute of Neurological Disorders and Stroke (NINDS)
  More Information

Additional Information:
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Responsible Party: National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) ) Identifier: NCT00018889     History of Changes
Other Study ID Numbers: 010206, 01-N-0206
Study First Received: July 7, 2001
Last Updated: October 2, 2015
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Clinical Evaluation
Genetic Study
Essential Tremor
Familial Myoclonus
Hereditary Ataxia
Movement Disorder
Inherited Movement Disorder

Additional relevant MeSH terms:
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Pathologic Processes processed this record on October 06, 2015