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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00682513

Enrollment

198

Registered

2008-05-22

Start date

2008-04-01

Completion date

2027-07-31

Last updated

2026-05-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Dystonia, Parkinsonism

Keywords

dystonia, parkinsonism, rapid-onset dystonia-parkinsonism, RDP, Alternating Hemiplegia of Childhood, AHC

Brief 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.

Detailed 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.

Interventions

None listed

Study design

Observational model

FAMILY_BASED

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

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

Exclusion criteria

* none

Design outcomes

Primary

Measure	Time frame	Description
RDP Severity	Visit 1 (baseline)	History of symptom onset and duration will be obtained and current degree of severity assessed.

Secondary

Measure	Time frame	Description
Presence of neuropsychiatric disease	Will be assessed at Visits 1 (baseline) and 2 (24 months), approximately 2 years apart	Psychiatric interview and cognitive assessment will be performed to examine presence or absence of symptoms.

Countries

United States

Contacts

PRINCIPAL_INVESTIGATORAllison Brashear, MD

Dean, University at Buffalo Jacobs School of Medicine and Biomedical Sciences

Outcome results