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