Bioenergetic Function in Parkinson's Disease
Data Collection
Synucleinopathies+6
+ Basal Ganglia Diseases
+ Brain Diseases
Summary
Study start date: January 14, 2004
Actual date on which the first participant was enrolled.This study wants to focus on mitochondrial defects associated with Parkinson's disease (PD) and how they relate to alpha-synuclein (SNCA) expression and function. Individuals from families with inherited Parkinson's disease (affected and at risk members), as well as normal individuals, will be enrolled. All subjects will be asked to provide blood samples in order to study bioenergetic function in mitochondria from their platelets. These studies will include genotyping and determination of polymorphisms in the subjects' mitochondrial DNA (mtDNA) in order to delineate any significant abnormality that may be associated with a particular group. Cardiolipin levels will be obtained fee for service at Lipomics. Basic respirometry, enzyme activity, and somatic cell hybridization will be performed in the PI's lab. Protein analysis will be performed in the proteomics facility at NIMH.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.150 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.Over 18 Years
Range of ages for which participants are eligible to join.Healthy volunteers allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Criteria
* INCLUSION CRITERIA: Individuals over the age of 18 from families in which an inherited form of parkinson's disease is apparent will be enrolled. These patients are already enrolled in the Genetic linkage analysis protocol 97-HG-0173. The diagnosis of Parkinson's disease must be supported by accepted clinical criteria including: tremor, bradykinesia, rigidity and responsiveness to L-DOPA. Unaffected family members found to be at risk, will also be enrolled. The normal control group will be comprised of anonymous platelet donors from the NIH Department of Transfusion Medicine and of individuals over the age of 18 with no known neurological disorder and normal neurological examination matched by age and sex that may be actively recruited. Individuals with Lewy Body disease (LBD) that meet current criteria for diagnosis (hallucinations, diurnal variation, and dementia associated with extrapyramidal symptoms within a one year period) will also be included in the study. EXCLUSION CRITERIA: Because some medications can alter mitochondrial function, patients on MAO inhibitors, antidiabetic sulfonylureas and benzodiazepines will be excluded from the study. No person under the age of 18 will be enrolled in this study. This is due to the fact that, except for very rare occasions, Parkinson's disease affects only adults.
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 1 location
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, United StatesSee the location