|
Protocol Number:
97-HG-0078
- Title:
Genetic Analysis of Parkinson's Disease
- Number:
97-HG-0078
- Summary:
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 a brief medical examination, provide a personal and family medical history, 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.
- Sponsoring Institute:
-
National Human Genome Research Institute (NHGRI)
- Recruitment Detail
- Type:
Active Accrual Of New Subjects
- Gender:
Male & Female
- Referral Letter Required:
No
- Population Exclusion(s):
Children
- Eligibility Criteria:
INCLUSION CRITERIA:
Individuals over the age of 18 from families in which an autosomal dominant form of Parkinson's disease is apparently being inherited.
The diagnosis must be supported by accepted clinical criteria: tremor, bradykinesia, and responsiveness to L-DOPA.
Unaffected family members will also be enrolled.
Subjects must give consent.
Parkinson's disease may be associated with dementia.
Decisionally-impaired individuals will be enrolled.
- Special Instructions:
Currently Not Provided
- Keywords:
-
Linkage
-
Polymorphism
-
Substantia Nigra
-
Dopamine
-
Dominant
-
Parkinson's Disease
- Recruitment Keywords:
-
Parkinson's Disease
- Conditions:
-
Parkinson's Disease
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Contacts:
-
Patient Recruitment and Public Liaison Office
Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 Electronic Mail:prpl@mail.cc.nih.gov
- Citations:
-
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
-
Mapping of a gene for Parkinson's disease to chromosome 4q21-q23
-
The low concordance rate for Parkinson's disease in twins
If you have:
Search The Studies | Help | Questions | Clinical Center Home | NIH Home
Warren Grant Magnuson Clinical Center (CC) National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/27/2004
|
|