Scientists Uncover a Novel Gene for Infantile Parkinson Disease

Scientists at the University of Birmingham have discovered genetic mutations that cause a rare childhood neurological disorder that could also have important implications for our understanding of Parkinson's disease. Led by Professor Eamonn Maher and Manju Kurian, the Birmingham team conducted detailed genetic sequencing in two families who had children diagnosed with infantile parkinsonism-dystonia (IPD) - a rare, recently discovered, genetic condition that produces symptoms similar to Parkinson's disease in children. The results of the investigation, published in the Journal of Clinical Investigation, identified mutations in the dopamine transporter gene (SLC6A3) which severely affects the transport of dopamine in the nervous system. This is the first time a loss-of function mutation of the dopamine transporter has been identified. Variations in the dopamine transporter have been implicated in a number of diseases including ADHD, schizophrenia, and bipolar disorder. However, identification of the molecular basis of IPD suggests that the dopamine transporter could also be a candidate gene for other movement disorders associated with Parkinsonism and other dystonic features, Kurian says: "The fact the mutations occurs in a gene which plays an important role in dopamine transport opens up a wide range of possibilities for studying more common diseases. The SLC6A3 gene has been suggested as a candidate for conditions as varied as Parkinson's disease and ADHD, but this is the first time we have seen changes in the gene definitely linked to Parkinson's disease-like symptoms.