Parkinson's Disease Due to Extra Genes (cont.)

"This study is an exciting step forward in our understanding of this disease," notes the NIA's Singleton. "It contributes to the growing body of evidence suggesting that genetic variations in a-synuclein contribute to Parkinson's disease. It suggests that in Parkinson's disease both mutated and normal a-synuclein behave in a way that is quantitatively different from the way the protein functions in people without Parkinson's disease."

The researchers point out that the findings in the Science report are relevant to both familial and sporadic, or typical, Parkinson's disease. The pathology of typical Parkinson's disease is similar to the pathology in this family, they note, and previous work from the group and others has suggested that the amount of synuclein produced might contribute to a person's risk of getting the disease. "We hope that this type of basic research will yield new understandings that will ultimately allow us to go beyond just treating the symptoms of Parkinson's disease to one day halting the disease's progression," says Farrer.

Further, the team notes, the mechanism of disease in this study is similar to that seen in people with Down syndrome, where patients make an excess of a protein, beta-amyloid, which accumulates leading to a form of Alzheimer's disease. This suggests that the same kind of disease mechanisms may be at work in a variety of diseases characterized by protein accumulation in and around cells in the brain.

The important new findings, the researchers emphasized, would not be possible without the most critical partners in the research, the family members of the Iowa kindred. Some members of the family have been involved with these research studies for many years, and many have devoted themselves to helping researchers identify the cause of their disorder. The research team expressed deep appreciation for the family members' participation and their patience. "The family was dedicated to the research even when it wasn't clear that we would find the cause," says NINDS' Gwinn-Hardy, who has been studying the family for nearly a decade. "They have made many sacrifices over the years to advance this work and their contribution needs to be recognized." The family, however, has asked not to be contacted directly by the media.

Source: National Institutes of Health, (

Last Editorial Review: 7/8/2004