Neuroimaging of Dystonia
Condition: Primary Cervical Dystonia; DYT 1 Dystonia
MeSH terms: Dystonia; Dystonic Disorders; Torticollis
Study type: Observational

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.
    

Detailed description: 
      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.
    

Intervention name(s): Primary Cervical Dystonia (Trihexyphenidyl); Controls Primary Cervical Dystonia (Trihexyphenidyl); DYT 1 Dystonia (Healthy Control); DYT 1 Dystonia
Intervention type(s): Drug; Other; Other; Other
Intervention description(s): After the baseline testing these subjects will receive a dose of trihexyphenidyl 2 mg an hour prior to the second functional magnetic resonance imaging (fMRI) scan. This is to test the change in cerebral blood flow based on blood-oxygen-level dependent (BOLD) contrast during a precision gripping task after administration of trihexyphenidyl compared to change in BOLD contrast during a precision gripping task. The subjects will be done with the study after the second MRI scan has been completed.; These subjects will receive the following: 1) data about clinical movement disorder history, age, gender, height, weight, and other medical conditions; 2) clinical neurological examination; 3) tests assessing cognitive abilities including: the Montreal Cognitive Assessment, Stroop, Digit Span, and Brief Test of Attention (BTA); 4) measures of anxiety and depression: the Beck Depression Index (BDI II). Only participants aged 18+ will be given the BDI; and 5) Functional magnetic resonance imaging (fMRI) and structural MRI will be performed.; These subjects will receive the following: 1) data about clinical movement disorder history, age, gender, height, weight, and other medical conditions; 2) clinical neurological examination; 3) tests assessing cognitive abilities including: the Montreal Cognitive Assessment, Stroop, Digit Span, and Brief Test of Attention (BTA); 4) measures of anxiety and depression: the Beck Depression Index (BDI II). Only participants aged 18+ will be given the BDI; and 5) Functional magnetic resonance imaging (fMRI) and structural MRI will be performed.; These subjects will receive the following: 1) data about clinical movement disorder history, age, gender, height, weight, and other medical conditions; 2) clinical neurological examination; 3) tests assessing cognitive abilities including: the Montreal Cognitive Assessment, Stroop, Digit Span, and Brief Test of Attention (BTA); 4) measures of anxiety and depression: the Beck Depression Index (BDI II). Only participants aged 18+ will be given the BDI; and 5) Functional magnetic resonance imaging (fMRI) and structural MRI will be performed.
Other intervention name(s): Artane; Apo-Trihex; Parkin; Pacitane; Benzhexol; Trihex; Trihexphenidyl
Intervention MeSH terms: Trihexyphenidyl
Observational model: Case-Control
Time perspective: Prospective
Sampling method: Non-Probability Sample
Study population: 
        Qualifying candidates with a diagnosis of DYT 1 dystonia will be identified and invited to
        participate utilizing an IRB approved database and neurologists review.
      
Biospecimen description: 
      Blood
    
Keywords: dystonia; cervical dystonia; DYT1; DYT 1; DYT-1; Dystonia 1; fMRI; healthy; trihexyphenidyl; Artane; Apo-Trihex; Parkin; Pacitane; Benzhexol; Trihex