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

University at Buffalo (UB)

Status: Enrolling

Conditions: Dystonia; Parkinsonism

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00682513

1R01NS058949-01A1 (U.S. NIH Grant/Contract)

1704511 (Other Identifier)

IRB00007686 (Other Identifier)

1688159

BG05-556 (Other Identifier)

Details and patient eligibility

About

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.

Full 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.

Enrollment: 198 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

• none

Trial design

198 participants in 1 patient group

ATP1A3 Mutation

Description:

Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members