Health

Linda Carroll NBC News contributor

13 hours ago

A rare genetic mutation that disrupts the production of histamine may help researchers unravel the mystery that surrounds Tourette syndrome.

The mutation discovered by Yale researchers can cause the kinds of tics and other abnormalities that are the hallmark of the syndrome, according to a study published Wednesday in the journal Neuron.

Thus far the genetic anomaly has been discovered only in nine members of a single family: a father and all eight of his children who have both the mutation and Tourette syndrome.

We know that Tourette is about 90 percent genetic, said study coauthor Dr. Christopher Pittenger, an associate professor of psychiatry and psychology at the Yale University School of Medicine and director of the Yale OCD research clinic. But its been incredibly hard to find any genetic abnormalities that cause the syndrome. We have proven that this gene really is the cause of Tourette in this family and also looked at some of its downstream effects.

Courtesy Jeffrey Kramer

Jeffrey Kramer and his three sons. Kramer and two of his grown-up sons have been living with Tourette for decades. Hes excited by the new findings, but realistic about their impact on patients with the syndrome.

What isnt known yet is how, or if, this finding can be extended to other people with Tourette, Pittenger and other experts said.

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Rare genetic mutation discovered in Tourette syndrome family