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Study Disputes Parkinson's-Gene Link

NEW YORK (Reuters) -- Researchers say the recent announcement of the =
discovery of a gene suspected of triggering Parkinson's disease may have =
been premature. A report in the current issue of the journal Neurology =
concludes that the gene has been found in only one family -- and the =
neurological disorder that runs in that family is not typical =
Parkinson's disease. It appears that the gene in question has no link to =
the vast majority of Parkinson's cases.=20

As reported by Reuters on June 26, 1997, researchers at the National =
Human Genome Research Institute, part of the National Institute of =
Health (NIH) in Bethesda, Maryland, announced the discovery of a genetic =
mutation in the members of a specific Italian family, called the =
Contursi kindred. Family members seem especially prone to a form of =
early-onset Parkinson's disease; a chronic neurological illness that =
causes tremors and a gradual deterioration in muscle control.=20

However, researchers led by neurologist Dr. J. William Langston of The =
Parkinson's Institute in Sunnyvale, California, now say the gene plays =
no role in the vast majority of cases.=20

They closely examined the DNA structure of a group of American =
Parkinson's patients and found the mutation "was not present in any of =
the 100 patients studied."=20

"This gene is obviously not common in the general population," Langston =
said.=20

The study was initiated after widespread confusion among patients and =
physicians as to the necessity for genetic testing in families affected =
by Parkinson's.=20

But Langston is now of the opinion that the Contursi clan "is probably =
the only family on earth with this mutation. He believes "the news about =
(the gene's) discovery was overgeneralized, causing pain and concern in =
families."=20

In fact, the California team are not even sure if affected members of =
the Contursi clan are suffering from Parkinson's at all. "The Contursi =
kindred frequently have atypical clinical features, including a more =
rapid progression of disease," than is usual among Parkinson's patients. =
In addition, the researchers note that the Contursi illness does not =
seem to respond to treatment with L-dopa, the neurological drug which =
has proven successful in slowing down the ravages of Parkinson's =
disease.=20

But Langston believes the discovery of the gene is "tremendously =
important." He points out that the Contursi gene triggers the production =
of a protein able to kill brain cells. "This discovery may allow us to =
learn a huge amount about how an abnormal gene can cause a disease =
similar to Parkinson's disease, which may help us learn more about what =
causes Parkinson's itself," he said. SOURCE: Neurology (1998;50:513-514) =