Summary

for people ages 2 years and up (full criteria)
at Winston-Salem, North Carolina
study started
estimated completion

Description

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.

Official Title

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

Details

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.

Keywords

Dystonia Parkinsonism rapid-onset dystonia-parkinsonism RDP Alternating Hemiplegia of Childhood AHC Dystonic Disorders Parkinsonian Disorders ATP1A3 Mutation

Eligibility

You can join if…

Open to people ages 2 years and up

  • clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis of RDP or AHC, or diagnosis of CP with clinical presentation consistent with ATP1A3 disease

You CAN'T join if...

  • none

Location

  • Wake Forest University Health Sciences accepting new patients
    Winston-Salem North Carolina 27157-1043 United States

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, Davis
Links
ATP1A3 diseases study website
Sign up for this study
ID
NCT00682513
Study Type
Observational
Last Updated