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

Description

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.

Conditions

Dystonia, Parkinsonism

Study Overview

Study Details

Study overview

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

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

Condition
Dystonia
Intervention / Treatment

-

Contacts and Locations

Sacramento

University of California, Davis, Sacramento, California, United States, 95817

Miami

University of Miami, Miami, Florida, United States, 33136

Buffalo

University at Buffalo, Buffalo, New York, United States, 14203

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis of RDP or AHC
  • * none

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

State University of New York at Buffalo,

Allison Brashear, MD, PRINCIPAL_INVESTIGATOR, Dean, University at Buffalo Jacobs School of Medicine and Biomedical Sciences

Study Record Dates

2027-07-31