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The source of this article is The Daily Freeman: http://tinyurl.com/4wwzn

Local doc isolates 'essential tremor' gene
By Jesse J. Smith, Freeman staff02/10/2005

NEW PALTZ - A local physician and geneticist has made a breakthrough
discovery that could help millions of people who suffer from a common
trembling disorder.

Dr. Joseph Higgins, of the Center for Human Genetics and Child Neurology of
the Mid-Hudson Family Health Institute, announced on Tuesday that he had
isolated a genetic mutation that causes "essential tremor," a neurological
disorder responsible for involuntary shaking that afflicts between 1 percent
and 4 percent of the general population.

The discovery, published in the Feb. 8 edition of the medical journal
Neurology, may one day lead to a definitive test for essential tremor, which
frequently is misdiagnosed as Parkinson's disease.

Higgins' identification of the gene mutation follows eight years of research
into the genetic foundation of essential tremor, which can cause involuntary
shaking of the arms, hands, head and legs. The work began when Higgins, a
Fishkill native, worked at the National Institutes of Health and involved
population-based studies of more than 100 families in the United States and
Singapore affected by essential tremor.

The research focused on narrowing a list of possible locations for multiple
genes related to the disorder, a process which, in the early stages, Higgins
compared to "circling in orbit above the Earth looking for a burnt-out light
bulb in a basement somewhere in New Paltz."

Higgins' work in New Paltz was funded by a $600,000 National Institutes of
Health grant and employed SUNY New Paltz graduate Joanna Pucilowska and
Marist College grad Ronnie Lombardi as researchers. The work was carried out
at the Mid-Hudson Family Health Institute's genetic research facility in New
Paltz, which opened in 2000.

Last year, Higgins identified a gene mutation that causes a form of mental
retardation.

Higgins said the most immediate clinical application of his research will be
to develop a blood test to differentiate essential tremor from Parkinson's
disease, which also causes involuntary shaking.

Misdiagnoses of essential tremor as early stage Parkinson's is a persistent
problem, and Higgins said his research will allow for better diagnoses in
10-15 percent of all cases.




İDaily Freeman 2005 

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