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Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2016 by Wake Forest University Health Sciences
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Allison Brashear, Wake Forest School of Medicine Identifier:
First received: May 20, 2008
Last updated: October 31, 2016
Last verified: October 2016
The purposes of this study are to identify persons with rapid-onset dystonia-parkinsonism (RDP) or mutations of the RDP gene, document prevalence of the disease, and map its natural history.


Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3

Resource links provided by NLM:

Further study details as provided by Wake Forest University Health Sciences:

Primary Outcome Measures:
  • RDP Severity [ Time Frame: Visit 1 ]
    Only one study visit required. History of symptom onset and duration will be obtained and current degree of severity assessed.

Secondary Outcome Measures:
  • Presence of neuropsychiatric disease [ Time Frame: Visit 1 ]
    Psychiatric interview and cognitive assessment will be performed to examine presence or absence of symptoms.

  • Magnetic Resonance Imaging (MRI) [ Time Frame: Visit 1 ]
    Structural and functional MRI will be performed to characterize components of hypothesized ATP1A3 pathway (cortico-stiato-pallidothalamocortical and cerebello-thalamo-cortical pathways and additional dentatorubral-pallidal and dentate-olivary pathways).

Biospecimen Retention:   Samples With DNA
whole blood, tissue (saliva samples)

Estimated Enrollment: 130
Study Start Date: April 2008
Estimated Study Completion Date: April 2020
Estimated Primary Completion Date: April 2020 (Final data collection date for primary outcome measure)
ATP1A3 Mutation
Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members

Detailed Description:

Rapid-onset dystonia-parkinsonism (RDP) is a rare, movement disorder with variable characteristics ranging from sudden onset (hours to days) of severe dystonic spasms to gradual onset of writer's cramp. RDP has elements of both dystonia and Parkinson's disease—two neurological diseases with motor and neuropsychological symptoms that hinder the quality of life. An internal trigger associated with extreme physiological stress has been reported prior to abrupt symptom onset of RDP.

This study, which is a continuation of an earlier study begun by Dr. Allison Brashear, aims to more clearly identify the characteristics associated with RDP and to explore whether mutations in the RDP gene are associated with atypical dystonias, Parkinson's disease, and other movement disorders.

Physicians from around the world who suspect their patients may have RDP or other movement disorders will send videotaped neurological assessments of their patients and blood samples for genetic analysis.


Ages Eligible for Study:   2 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Selection will take place predominantly via primary care clinics, i.e., physician referrals when patients present with a movement disorder suspicious for RDP.

Inclusion Criteria:

  • clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis of RDP or AHC

Exclusion Criteria:

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00682513

Contact: Jared F Cook, MA 336-716-9007

United States, North Carolina
Wake Forest University Health Sciences Recruiting
Winston-Salem, North Carolina, United States, 27157-1043
Contact: Jared F Cook, MA    336-716-9007   
Principal Investigator: Allison Brashear, MD         
Sponsors and Collaborators
Wake Forest University Health Sciences
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Allison Brashear, MD Professor and Chair, Department of Neurology, Wake Forest University Health Sciences
  More Information

Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Allison Brashear, Principle Investigator, Professor and Chair, Wake Forest School of Medicine Identifier: NCT00682513     History of Changes
Other Study ID Numbers: 5R01NS058949-04 ( US NIH Grant/Contract Award Number )
BG05-556 ( Other Identifier: Wake Forest University School of Medicine )
1R01NS058949-01A1 ( US NIH Grant/Contract Award Number )
IRB00007686 ( Other Identifier: Wake Forest University School of Medicine )
Study First Received: May 20, 2008
Last Updated: October 31, 2016
Individual Participant Data  
Plan to Share IPD: No

Keywords provided by Wake Forest University Health Sciences:
rapid-onset dystonia-parkinsonism
Alternating Hemiplegia of Childhood

Additional relevant MeSH terms:
Parkinsonian Disorders
Dystonic Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Movement Disorders
Central Nervous System Diseases
Basal Ganglia Diseases
Brain Diseases processed this record on April 28, 2017