Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders
| Status: | Recruiting |
|---|---|
| Conditions: | Parkinsons Disease, Neurology, Orthopedic |
| Therapuetic Areas: | Neurology, Orthopedics / Podiatry |
| Healthy: | No |
| Age Range: | 2 - Any |
| Updated: | 7/18/2018 |
| Start Date: | April 2008 |
| End Date: | April 2020 |
| Contact: | Jared F Cook, MA |
| Email: | jarcook@wakehealth.edu |
| Phone: | 336-716-9007 |
Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3
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.
(RDP) or mutations of the RDP gene, document prevalence of the disease, and map its natural
history.
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.
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.
Inclusion Criteria:
- clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis
of RDP or AHC
Exclusion Criteria:
We found this trial at
1
site
1 Medical Center Blvd
Winston-Salem, North Carolina 27157
Winston-Salem, North Carolina 27157
336-716-2011
Principal Investigator: Allison Brashear, MD
Phone: 336-716-9007
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