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Scientists Link An Adult Tremor And Genetic Childhood Ailment
By Lindsey Tanner
Associated Press
Posted on Wed, Jan. 28, 2004

CHICAGO - Researchers say they have discovered a tremor disorder in adults that is often mistaken for Parkinson's or
Alzheimer's and is linked to a common cause of mental retardation in children.

The disorder, which can also cause memory loss, might affect more than 1 in 3,000 adults, mostly men, according to
scientists at the University of California at Davis.

There is no known cure for the disorder, but its symptoms can sometimes be treated with some of the same medications
used against Parkinson's and Alzheimer's.

The researchers have named the disorder Fragile X-associated Tremor/Ataxia Syndrome, or FXTAS.

"FXTAS may be one of the most common causes of tremor and balance problems in the adult population, yet it is being
misdiagnosed because neurologists who see adults with movement disorders are not aware that they need to look for a
family history of Fragile X in grandchildren or to check for carriers of the gene mutation," said study coauthor Randi
Hagerman, medical director of UC-Davis' MIND Institute.

The findings appear in today's Journal of the American Medical Association.

The disorder affects some carriers of the same abnormal gene that causes fragile X syndrome in children, an inherited
disease that usually involves retardation. About 1 in 800 men are fragile X carriers and at least 30 percent of them
might have the tremor disorder, the researchers said.

Hagerman made the connection a few years ago after hearing repeated complaints from mothers of fragile X children about
their own elderly fathers having neurological problems.

Standard DNA blood tests can identify fragile X carriers and imaging tests can detect telltale changes in the brain
that do not appear in other diseases, said Paul Hagerman, a UC-Davis professor of biological chemistry, Hagerman's
husband and the study's senior author.

In fragile X syndrome, the body makes insufficient amounts of a protein necessary for normal neural-cell function. By
contrast, FXTAS is believed to be caused by abnormal amounts of genetic material that accumulates in the brain in an
attempt to make enough of that protein, said study coauthor Elizabeth Berry-Kravis, a pediatric neurologist at
Chicago's Rush University Medical Center.

Fragile X syndrome in children was identified some 50 years ago and is believed to affect about 1 in 3,700 boys and 1
in 8,000 girls.

SOURCE: Associated Press / Philadelphia Inquirer, PA
http://www.philly.com/mld/philly/living/health/7811780.htm

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