Protocol Number: 07-N-0137

Title:

Expanding the Phenotype of the LRRK-2 Mutation in Individuals with History of Parkinson's Disease and their Relatives: a Prospective Study

Number:

07-N-0137

Summary:

This study will identify symptoms and other characteristics of Parkinson's disease that may be associated with changes in a gene called leucine-rich repeat kinase 2 (LRRK2). Changes in this gene have been found in patients with and without a family history of Parkinson's disease. This study will examine people with Parkinson's disease to try to identify how symptoms develop over time. First-degree relatives of patients will also be studied.

People 18 years of age or older with Parkinson's disease or people who have a first-degree relative with Parkinson's disease may be eligible for this study.

Participants visit the NIH Clinical Center every other year for 10 years for some or all of the procedures listed below. Each visit requires 3-4 days of testing, which may be done on an inpatient or outpatient basis. Telephone interviews are conducted during the alternate years.

-History and physical examination.

-Smell testing: Subjects are asked to identify 40 different scents.

-Sensory testing: Objects with grooves and ridges are touched to subjects' fingertips. With their eyes closed, the subjects are asked to say which way the grooves and ridges run on the objects.

-Neuropsychological evaluation: Subjects are asked about their memory and thinking and may be asked to complete some pen and paper tests.

-Psychiatric evaluation: Subjects are asked about psychiatric symptoms, including anxiety and depression.

-Blood drawing: Blood is drawn through a needle in the arm.

-Magnetic imaging resonance (MRI) scans of the brain: MRI uses a strong magnetic field and radio waves to obtain images of body organs and tissues. During the test, subjects lie on a table that can slide in and out of the MRI scanner (a metal cylinder surrounded by a strong magnetic field). The procedure lasts about 30 minutes, during which the subjects may be asked to lie still for up to 5 minutes at a time.

-Transcranial sonography (TCS): TCS uses sound waves to obtain images of the brain. Subjects lie on their back and an ultrasound device is moved around the scalp.

-Sleep study (1-2 night hospital admission): Subjects' brain waves are recorded during sleep using electroencephalography (EEG). Their breathing rate, pulse and oxygen level are also monitored.

-Questionnaire: Subjects complete several questionnaires designed to obtain information on symptoms or traits that have been reported to be associated with Parkinson's disease.

Sponsoring Institute:

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): Children

Eligibility Criteria:

INCLUSION CRITERIA:

1) Subjects at least 18 years of age.

2) Patients with a diagnosis of PD with a known LRRK2 mutation.

OR

3) First degree relatives without a diagnosis of PD with a family history suggestive of inherited PD due to LRRK2 mutations.

EXCLUSION CRITERIA:

1) Subjects with a history of severe head injury, encephalitis, chronic use of drugs that cause parkinsonism or a clinical history of strokes.

2) For the magnetic resonance imaging (MRI), exclusion criteria include the following: pregnancy, pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pump, or shrapnel fragments. Patients will be screened for these conditions prior to having the MRI scan performed.

Special Instructions:

Currently Not Provided

Keywords:

Parkinson's Disease

Gene

Genetic

Family Studies

LRRK-2

Recruitment Keyword(s):

Parkinson Disease

PD

Condition(s):

Parkinson Disease

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Institute of Neurological Disorders and Stroke

Contact(s):

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

Citation(s):

Braak H, Braak E. Pathoanatomy of Parkinson's disease. J Neurol. 2000 Apr;247 Suppl 2:II3-10.

Nussbaum RL, Ellis CE. Alzheimer's disease and Parkinson's disease. N Engl J Med. 2003 Apr 3;348(14):1356-64.

Litvan I, Bhatia KP, Burn DJ, Goetz CG, Lang AE, McKeith I, Quinn N, Sethi KD, Shults C, Wenning GK; Movement Disorders Society Scientific Issues Committee. Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders. Mov Disord. 2003 May;18(5):467-86.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Networks and Applications, CC.

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National Institutes of Health Clinical Center Bethesda, Maryland 20892. Last update: 09/15/2008