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| ID | Type | Description | Link |
|---|---|---|---|
| BG05-556 | Other Identifier | Wake Forest University School of Medicine | |
| 1R01NS058949-01A1 | U.S. NIH Grant/Contract | View source | |
| IRB00007686 | Other Identifier | Wake Forest University School of Medicine | |
| 1704511 | Other Identifier | University of California, Davis IRB |
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| Name | Class |
|---|---|
| National Institute of Neurological Disorders and Stroke (NINDS) | NIH |
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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.
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.
The study involves in-person or remote (telemedicine) neurological assessments and blood samples for genetic analysis.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| ATP1A3 Mutation | Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members |
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| Measure | Description | Time Frame |
|---|---|---|
| RDP Severity | History of symptom onset and duration will be obtained and current degree of severity assessed. | Visit 1 (baseline) |
| Measure | Description | Time Frame |
|---|---|---|
| Presence of neuropsychiatric disease | Psychiatric interview and cognitive assessment will be performed to examine presence or absence of symptoms. | Will be assessed at Visits 1 (baseline) and 2 (24 months), approximately 2 years apart |
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Inclusion Criteria:
Exclusion Criteria:
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Selection will take place predominantly via primary care clinics, i.e., physician referrals when patients present with a movement disorder suspicious for RDP.
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| Name | Affiliation | Role |
|---|---|---|
| Allison Brashear, MD | Dean, University at Buffalo Jacobs School of Medicine and Biomedical Sciences | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Miami | Miami | Florida | 33136 | United States | ||
| University at Buffalo |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 24436111 | Derived | Cook JF, Hill DF, Snively BM, Boggs N, Suerken CK, Haq I, Stacy M, McCall WV, Ozelius LJ, Sweadner KJ, Brashear A. Cognitive impairment in rapid-onset dystonia-parkinsonism. Mov Disord. 2014 Mar;29(3):344-50. doi: 10.1002/mds.25790. Epub 2014 Jan 16. | |
| 22924536 | Derived | Brashear A, Mink JW, Hill DF, Boggs N, McCall WV, Stacy MA, Snively B, Light LS, Sweadner KJ, Ozelius LJ, Morrison L. ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. Dev Med Child Neurol. 2012 Nov;54(11):1065-7. doi: 10.1111/j.1469-8749.2012.04421.x. Epub 2012 Aug 28. |
| Label | URL |
|---|---|
| ATP1A3 diseases study website | View source |
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| ID | Term |
|---|---|
| D004421 | Dystonia |
| D020734 | Parkinsonian Disorders |
| C538001 | Dystonia 12 |
| C536589 | Alternating hemiplegia of childhood |
| ID | Term |
|---|---|
| D020820 | Dyskinesias |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
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whole blood, tissue (saliva samples)
| Buffalo |
| New York |
| 14203 |
| United States |
| D013568 |
| Pathological Conditions, Signs and Symptoms |
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009069 | Movement Disorders |