CONTACT: Marguerite Beck at (804) 924-5679 TV News Office at (804) 924-7550 STUDY SUGGESTS PARKINSON'S DISEASE MAY BE MATERNALLY INHERITED This study complements biochemical data published earlier this year. CHARLOTTESVILLE, Va., Feb. 11 --The first clinical evidence that Parkinson's disease could be inherited through mutations of mitochondrial DNA (mtDNA) has been reported by researchers at the University of Virginia Health Sciences Center in the February issue of the Annals of Neurology. The U.Va. team found a preponderance of apparent maternal transmission in patients with familial Parkinson' disease. "This new finding represents a critical link between previous biochemical studies conducted at U.Va. and the clinical genetics of Parkinson's,"said Dr. Frederick Wooten, principal investigator of the study and chairman of the neurology department at U.Va. "The next step is to prove directly that the disease is due to a mutation in mitochondrial DNA. This will necessitate the laborious sequencing of mitochondrial DNA in patients with Parkinson+s disease to identify key mutations that we think are likely to exist." The U.Va. team studied 265 consecutive patients who came to U.Va. for care of their Parkinson+s. Complete family histories of each patient were taken and entered into a clinical data base. Whenever possible, the diagnosis of Parkinson's in an affected relative was confirmed by examining the relative, consulting by phone with the relative's physician and/or examining the relative's medical records. The data were evaluated statistically to compare gender proportions and to test differences in age at the disease+s onset among patients, parents and siblings. Researchers in the year-long study found a preponderance of maternal inheritance in families where a patient had both an affected parent and an affected sibling. * Thirty-two of the 265 patients with Parkinson's had a parent with Parkinson's. * Eighteen of the affected parents were women and 14 of the affected parents were men. * Thirteen of the patients with Parkinson's had one or more affected siblings. * Most importantly, five patients had both an affected parent and at least one affected sibling. In each of the five cases, the affected parent was the mother. A secondary finding in the study suggests that when there is an affected mother and an affected child, the onset of the disease in the child is at an earlier age than it was in the mother. This phenomenon is called anticipation. According to Wooten, the fact that anticipation may be occurring is consistent with inheritance patterns in other diseases known to be transmitted by mutations in mitochondrial DNA. The U.Va. study supports an increasing body of evidence suggesting both a genetic basis for and genetic anticipation in at least some cases of Parkinson's disease. Further, it serves to focus attention on the likelihood that at least some forms of Parkinson's are inherited through mutations in mitochondrial DNA, he said. This study complements biochemical data published earlier this year (Russell H. Swerdlow, "Origin and Functional Consequences of the Complex I Defect in Parkinson's Disease,"Annals of Neurology, Vol. 40, No. 4, October 1996) by a U.Va./MitoKor team that identified a specific genetic mutation in mitochondria that may cause Parkinson's. ### February 11, 1997