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

What we are studying

Rapid-Onset Dystonia-Parkinsonism (RDP) is an autosomal dominant disorder caused by mutations in the ATP1A3 gene. RDP is characterized by sudden onset over hours to days of persistent dystonia and parkinsonism. The classic features of RDP include dystonic spasms, bradykinesia, postural instability, dysarthria and dysphagia presenting over hours to a few weeks during late childhood or early adult years followed by stable symptoms for many years. However, the clinical phenotype may vary from the classic syndrome to mild limb dystonia without parkinsonism. Regardless of the clinical phenotype, CSF HVA has been low in some, but not all, affected individuals as well as some asymptomatic gene carriers (AGCs). Discerning the differences between the different RDP clinical phenotypes and their response to physiologic stress may give insight into the variable phenotypic presentations. Unlike other neurodegenerative diseases which evolve over years, the rapid onset of symptoms in RDP provides an ideal clinical opportunity to correlate the development and progression of both dystonia and parkinsonism with biochemical and clinical indices of neurologic function.

Who we are studying

  • Men and Women
  • Races:
    • White
    • African American
    • Asian
    • American Indian or Alaska Native
    • Native Hawaiian or Pacific Islander
    • Other
  • All Ethnicities
  • Ages 6+

Eligibility Criteria

  • Suspected diagnosis of RDP

What is involved

  • Subject will first undergo genetic screening (saliva or blood sample) for the presence of an ATP1A3 genetic mutation
  • If the subjects screen positive for ATP1A3 gene mutations they will then undergo a battery of evaluations including: a neurological exam; neuropsychological assessment; and psychiatric assessment.

Compensation

$10 for providing a DNA sample, $20 for completing all portions of psychiatric assessment, $20 for completing all portions of neuropsychological assessment

Contact Information

Study Coordinator
Jared Cook
Email
jarcook@wakehealth.edu
Phone
336-716-9007

Disclaimer: The information on this website is for general informational purposes only and SHOULD NOT be relied upon as a substitute for sound professional medical advice, evaluation or care from your physician or other qualified health care provider.