neuroimaging of dystonia

Conditions: Primary Cervical Dystonia; DYT 1 Dystonia

Summary: the main purpose of this study is to investigate primary cervical dystonia as compared to healthy control subjects and dyt 1 dystonia as compared to healthy control subjects by examining cognitive measures, physical measures, and structural and functional magnetic resonance imaging (mri). the secondary aim of this study is to investigate a specific drug therapy for primary cervical dystonia to develop a functional mri (fmri) research paradigm. the drug, trihexyphenidyl, is fda approved to treat parkinson's disease and is commonly prescribed by physicians as a treatment for symptoms of primary cervical dystonia.

to participate in this study, you will be asked to come to the university of florida for one testing day. for your convenience, arrangements will be made by the study coordinator. if you have a movement disorder, you will be tested in an "off" medication condition. we do not expect concerns or unwanted consequences arising from discontinuing medications for this duration. we will review the informed consent and you will have the opportunity to ask questions before signing the informed consent. during the experiment, you may be asked to complete the following: (1) questionnaires about quality of life and depression; (2) tests to measure your strength and motor function; (3) tests to measure your cognition; (4) functional and structural mri scan of your brain while performing a precision gripping task; (5) intravenous blood draw; (6) urine pregnancy test (if applicable); (7) trial of anticholinergic therapy drug trihexyphenidyl (if applicable - cervical dystonia only). participants with dyt 1 dystonia and healthy controls are not eligible to receive the trial drug. all women of childbearing potential will be given a urine pregnancy test. the questionnaire about depression will not be given to subjects under the age of 18. if you have any metal in your eye or eyes, the researchers may require additional screening to ensure that it is safe for you to enter the mri environment. if additional screening is determined to be necessary, you will be referred to radiology at shands uf for an orbitofrontal x-ray. blood will be collected for all subjects, including healthy control subjects. the blood may be analyzed, at the university of florida, to assess potential biomarkers for cervical dystonia and dyt 1 dystonia. biomarker testing is another way to say genetic testing.

Eligibility criteria:
inclusion criteria: * diagnosis of primary cervical dystonia and between the ages of 18-70, or * diagnosis of dyt 1 dystonia and between the ages of 7-50, or * healthy control and between the ages of 7-70 exclusion criteria: * neurological impairment from: seizure disorders, stroke, hypertension, heart disease, diabetes, traumatic brain injury (tbi), drug abuse, nerve disorders, dementia, parkinson's disease, dementia * not a candidate for magnetic resonance imaging (mri) * deep brain stimulation (dbs) surgery * any implanted electrical device * pregnant or planning pregnancy * breastfeeding * claustrophobia

Keywords: dystonia cervical dystonia dyt1 dyt 1 dyt-1 dystonia 1 fmri healthy trihexyphenidyl artane apo-trihex parkin pacitane benzhexol trihex