Longitudinal Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia-Parkinsonism, Alternating Hemiplegia of Childhood and other ATP1A3-related disorders.

You are invited to be in a research study. If you are a parent or guardian reading this brochure for your child, "you" refers to "your child" for the remainder of this document. Research studies are designed to gain scientific knowledge that may help other people in the future. You have been asked to participate because you may have symptoms of Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), Atypical Parkinsonism, Dystonia or other ATP1A3-related movement disorders. Please take your time to make your decision, and contact us if you have any question about the study. You may also discuss the studly with your family and friends.

Allison Brashear, MD, MBA
Vice President for Health Sciences and Dean,
Jacobs School of Medicine and Biomedical Sciences
University at Buffalo
Buffalo, NY

Jacobs School of Medicine and Biomedical Sciences University at Buffalo logo Atrium Health Wake Forest University School of Medicine logo
Inclusion Criteria
ATP1A3 gene
  • Adults and children 18 months of age or older
  • Diagnosed with RDP, AHC or other ATP1A3-related movement disorders
Study procedures
  • Blood draw for genetic testing (even if you have had past genetic testing)
  • Patient History
  • Family History
  • Videotaped movement disorder exam
  • Videotaped voice and speech assessment
  • Neuropsychological assessment

    Funded by NIH/NINDS R01NS58949