Advance reported in FXTAS syndrome

Published: Aug. 16, 2007 at 1:10 PM

ATLANTA, Aug. 16 (UPI) -- U.S. scientists have discovered a key protein in the brain pathway that leads to fragile X tremor/ataxia syndrome -- an inherited neurodegenerative disorder.

Fragile X tremor/ataxia syndrome, known as FXTAS, is a neurodegenerative disease caused by a pre-mutation in carriers of the mutated FMR1 gene. That's the same gene that causes fragile X syndrome -- the most common inherited cause of mental retardation.

Individuals with the FMR1 pre-mutation don't suffer retardation but are at risk for developing FXTAS, usually after age 50, which causes progressive problems with movement, tremor, memory loss, peripheral neuropathy and mental and behavioral changes.

Emory University scientists said their findings in a Drosophila model of FXTAS could lead to therapies that target the protein.

The study appears in the journal Neuron.

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