Role of Dopamine Receptors in Primary Focal Dystonias

Dystonia is a disabling movement disorder characterized by repetitive patterned or sustained muscle contractions causing twisting or abnormal postures that may afflict 250,000 people in the U.S. While the pathophysiology of dystonia remains uncertain the treatment is rather rudimentary. A better understanding of neural mechanisms of dystonias is not only an invaluable prerequisite for developing better treatment options but also a step toward better understanding of the complex network of basal ganglia. In this study I will investigate if there is any difference between the dopamine receptors and dopamine in people with dystonia and healthy subjects.

Study Overview

• Status: Completed
• Conditions: Healthy; Focal Dystonias

• Study Type: Observational
• Enrollment (Actual): 40

Contacts and Locations

Study Locations

• United States
  • Missouri
    • Saint Louis, Missouri, United States, 63141
      • Washington University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 21 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Any healthy control or patient with primary focal dystonia or arm or face.

Description

Inclusion Criteria:

• Age >20
• Male or Female
• Any race or ethnicity
• Primary focal dystonia (arm or cranial)
• Ability to give informed consent

Exclusion criteria:

• Family history of dystonia
• Pregnancy (confirmed with negative urine pregnancy test in women of child bearing potential), breastfeeding
• Exposure to radiation therapy
• Any MRI contraindications such as foreign metallic implants, pacemaker, and aneurysm clip etc.
• History of cardiac disease, uncontrolled hypertension, abnormal EKG during screening phase
• History of exposure to any drugs affecting dopaminergic systems within the last 6 months (e.g. dopamine receptor blocking agents, cocaine, amphetamine, tetrabenazine, reserpine, L-dopa, dopamine agonists, as they might affect the dopamine receptor binding or endogenous dopamine).
• Active depression (Beck Depression Inventory_II >14)
• Cognitive impairment (Mini-Mental State Score <27)
• CNS active medications such as gabapentin or narcotics, muscle relaxants which might be given for pain in the 3 days prior to study
• History of stroke, seizure, cerebral palsy, generalized dystonia, parkinsonism, inability to hold head still during the scanning time.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
healthy controls
patients with focal dystonias

Collaborators and Investigators

• Sponsor: Washington University School of Medicine
• Collaborators: National Institute of Neurological Disorders and Stroke (NINDS)
• Investigators: Principal Investigator: Perlmutter Joel, MD, Washington University School of Medicine

Study record dates

Study Major Dates

• Study Start: September 1, 2011
• Primary Completion (Actual): April 1, 2016
• Study Completion (Actual): April 1, 2016

Study Registration Dates

• First Submitted: June 10, 2011
• First Submitted That Met QC Criteria: June 14, 2011
• First Posted (Estimate): June 15, 2011

Study Record Updates

• Last Update Posted (Actual): May 15, 2018
• Last Update Submitted That Met QC Criteria: May 9, 2018
• Last Verified: May 1, 2018

More Information

Terms related to this study

• Keywords: dystonia; dopamine; focal; receptor
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Movement Disorders; Dyskinesias; Dystonia; Dystonic Disorders
• Other Study ID Numbers: 201102481