Winston-Salem, North Carolina 27157


Purpose:

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 summary:

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.


Criteria:

Inclusion Criteria: - clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis of RDP or AHC Exclusion Criteria:


NCT ID:

NCT00682513


Primary Contact:

Principal Investigator
Allison Brashear, MD
Professor and Chair, Department of Neurology, Wake Forest University Health Sciences

Jared F Cook, MA
Phone: 336-716-9007
Email: jarcook@wakehealth.edu


Backup Contact:

N/A


Location Contact:

Winston-Salem, North Carolina 27157
United States

Jared F Cook, MA
Phone: 336-716-9007
Email: jarcook@wakehealth.edu

Site Status: Recruiting


Data Source: ClinicalTrials.gov

Date Processed: March 16, 2018

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