RecruitingNCT00682513

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

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


Sponsor

State University of New York at Buffalo

Enrollment

198 participants

Start Date

Apr 1, 2008

Study Type

OBSERVATIONAL

Conditions

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.


Eligibility

Inclusion Criteria1

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

Exclusion Criteria1

  • none

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Locations(2)

University of Miami

Miami, Florida, United States

University at Buffalo

Buffalo, New York, United States

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NCT00682513


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