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

Dystonia Clinical Trial

Official title: Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3

Status Recruiting

Clinical Trial Summary

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.

Clinical Trial 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.

The study involves in-person or remote (telemedicine) neurological assessments and blood samples for genetic analysis. ;

Related Conditions & MeSH terms

• Dystonia
• Dystonic Disorders
• Parkinsonian Disorders
• Parkinsonism

• NCT number: NCT00682513
• Study type: Observational
• Source: State University of New York at Buffalo
• Contact: Rebecca Firth, MHA
• Phone: 716-881-7461
• Email: rsfirth@buffalo.edu
• Status: Recruiting
• Start date: April 2008
• Completion date: July 31, 2027