Summary

Location
at UC Davis
Dates
study started
completion around
Principal Investigator
by Vicki Wheelock, MD (ucdavis)

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.

The study involves in-person or remote (telemedicine) neurological assessments 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…

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

You CAN'T join if...

- none

Locations

  • University of California, Davis accepting new patients
    Sacramento California 95817 United States
  • University at Buffalo accepting new patients
    Buffalo New York 14203 United States
  • University of Miami accepting new patients
    Miami Florida 33136 United States

Lead Scientist at University of California Health

  • Vicki Wheelock, MD (ucdavis)
    Professor, Neurology, School of Medicine. Authored (or co-authored) 44 research publications

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
State University of New York at Buffalo
Links
ATP1A3 diseases study website
ID
NCT00682513
Study Type
Observational
Participants
Expecting 198 study participants
Last Updated