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Gene Analysis of Parkinson's Disease

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: November 3, 1999
Last updated: January 24, 2017
Last verified: August 31, 2009

The purposes of this study are to identify the gene or genes responsible for an inherited form of Parkinson's disease and learn more about how the disease develops.

In Parkinson's disease, a deficiency of a brain chemical called dopamine impairs the function of the part of the brain that controls movement. As a result, patients may have difficulty moving or they may have uncontrolled movements of their hands and fingers. Parkinson's disease usually occurs sporadically, with no known cause. In a few families, however, the disease seems to be inherited through a gene mutation (change). There is a 50-50 chance that a parent with the mutated gene will pass it on to a child. Children who do inherit the abnormal gene may or may not go on to actually develop Parkinson's disease-the relative chance of this happening is not known.

Individuals 18 years of age and older from families in which Parkinson's disease appears to be inherited may be eligible for this study. Participants will have their medical records reviewed, provide a personal and family medical history (by telephone or in person), and have a small blood sample (2 tablespoons) taken for genetic studies. The total time required for the study is about 1 to 2 hours.

Participants are encouraged to meet with a NIH investigator or with a genetics specialist in their local area before testing to talk about the possible implications for themselves and their families of the test results....

Parkinson's Disease

Study Type: Observational
Official Title: Gene Analysis in Parkinson's Disease

Resource links provided by NLM:

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

Estimated Enrollment: 320
Study Start Date: August 29, 1997
Primary Completion Date: August 31, 2009 (Final data collection date for primary outcome measure)
Detailed Description:

Mutational analysis in patients with Parkinson's disease and a positive family history will be undertaken in an effort to identify and better understand the function of defective genes that cause Parkinson's disease in these individuals. DNA from these individuals is an important resource for screening candidate genes for mutations, for confirming that genes identified by other approaches are altered in patients, and for defining the mutational spectrum in these genes (genotype/phenotype correlation).

Unrelated, anonymous normal individuals will serve as controls for sequence comparisons. Information about genotypes will not be communicated back to the individuals as part of this study. While mutational analysis will continue, no further participants will be recruited to this study.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Individuals over the age of 18 from families in which there are three or more individuals affected with Parkinson's disease (within three generations) and the proband was the only affected person available or willing to participate in the study

The diagnosis must be supported by accepted clinical criteria: tremor, bradykinesia, and responsiveness to L-DOPA.

PD may be associated with dementia. The study will lose power if individuals with mental impairment and PD are excluded. For this reason, decisionally-impaired individuals will be enrolled.


No one under 18 will be enrolled because, with the exception of the rare autosomal recessive PD due to parkin mutations, PD does not affect minors. Study design does not involve testing fetuses.

  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: NCT00001643

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
  More Information

Publications: Identifier: NCT00001643     History of Changes
Other Study ID Numbers: 970173
Study First Received: November 3, 1999
Last Updated: January 24, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Lewy Body
Parkinson's Disease

Additional relevant MeSH terms:
Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases processed this record on March 28, 2017