Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders
|Study Design:||Observational Model: Family-Based
Time Perspective: Prospective
|Official Title:||Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3|
- RDP Severity [ Time Frame: Visit 1 ] [ Designated as safety issue: No ]Only one study visit required. History of symptom onset and duration will be obtained and current degree of severity assessed.
- Presence of neuropsychiatric disease [ Time Frame: Visit 1 ] [ Designated as safety issue: No ]Psychiatric interview and cognitive assessment will be performed to examine presence or absence of symptoms.
- Magnetic Resonance Imaging (MRI) [ Time Frame: Visit 1 ] [ Designated as safety issue: No ]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
|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)|
Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00682513
|Contact: Jared F Cook, MAemail@example.com|
|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 firstname.lastname@example.org|
|Principal Investigator: Allison Brashear, MD|
|Principal Investigator:||Allison Brashear, MD||Professor and Chair, Department of Neurology, Wake Forest University Health Sciences|