Duke University Medical Center researchers have identified the second of three genes that can each independently cause the disorder known as cerebral cavernous malformations (CCM), which is characterized by mulberry-like clusters of blood vessels in the brain. The finding paves the way for a new genetic test for the rare, familial disease, which typically lies dormant in patients for decades before its potentially devastating symptoms appear, said the researchers.
Douglas A. Marchuk, PhD
Credit: Duke University Medical Center
The vessel lesions in the brain can cause seizures, severe headaches, hemorrhagic stroke and neurological deficits. Affected individuals have a 50 percent chance of passing the disease on to their children.
"People with this mutation are at great risk for developing blood vessel lesions in the brain and their associated symptoms, as are their future children," said Duke geneticist Douglas Marchuk, Ph.D., who led the study. "This is an example where genetic testing can make a tremendous impact on the care these families receive." Physicians currently diagnose patients only when lesions are found on an MRI scan after symptoms develop.
Kendall Morgan | dukemed news
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