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New Gene Identified for Condition that Causes Blood Clots in Brain

Researchers have identified a new gene linked to cerebral venous thrombosis, a condition that causes blood clots in the veins of the brain that can lead to stroke. The condition is more common in young and middle-aged women. The research is published in the January 8, 2008, issue of Neurology®, the medical journal of the American Academy of Neurology.

The study compared 78 people with cerebral venous thrombosis in Germany to 201 healthy people. Researchers found that a variant of the gene called factor XII C46T is more common in people with cerebral venous thrombosis than in healthy people. A total of 16.7 percent of those with cerebral venous thrombosis had the gene variant, compared to 5.5 percent of those without the condition.

The results were the same after adjusting for factors that could affect blood clotting, such as age, gender, smoking, and use of oral contraceptives.

“These results need to be confirmed, but it appears that people with cerebral venous thrombosis should be tested for this gene and should be considered for use of blood thinning medication to prevent future blood clots,” said study author Christoph Lichy, MD, of the University of Heidelberg in Germany.

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Other genetic variants have also been linked to cerebral venous thrombosis.

Cerebral venous thrombosis is a rare condition that is the cause of less than one percent of strokes and other cerebrovascular disorders, but it results in death approximately 10 percent of the time.

Symptoms include headaches, seizures, visual problems, and motor and sensory problems. In addition to genetic factors, other factors that can cause cerebral venous thrombosis include head injury, infection, and certain drugs.

The American Academy of Neurology, an association of more than 20,000 neurologists and neuroscience professionals, is dedicated to improving patient care through education and research. A neurologist is a doctor with specialized training in diagnosing, treating and managing disorders of the brain and nervous system such as epilepsy, dystonia, migraine, Huntington’s disease, and dementia.

Angela Babb | American Academy of Neurology
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