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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.

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.

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.

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."

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

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

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."

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.

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)

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