Duke Discovery May Lead To Early Diagnosis Of Genetic Brain Disease
Posted January 22, 2004
DURHAM, N.C. — People with an inherited form of a disease of the brain have new hope.
Duke geneticists discovered the second of three genes that, when mutated, may lead to headaches, seizures, stroke and even death.
The discovery could help people, like 3-year-old Julia Lee, who are diagnosed with the disease called
When Julia was an infant, her mother noticed the soft spot on her head was swelling. Doctors diagnosed the little girl with an inherited form of cavernous angioma.
A bubble-like lesion on blood vessels in Julia's brain was bleeding, requiring immediate surgery.
"If she hadn't of had that, she would have died on that day. She had a very severe hemorrhage," Connie Lee said. Julia has had three more brain surgeries since.
Only a quarter of people with the disease are diagnosed as children. Most people do not show symptoms until their teens or 20s.
In 1998, track star Florence Griffith Joyner died from a seizure in her sleep caused by a hemorrhaging cavernous angioma.
"We have people who are basically asymptomatic all the way to very severe seizures, hemorrhagic stroke and even rarely, but possibly, even death," said Duke geneticist Dr. Douglas Marchuk.
Right now, an expensive MRI scan is the best way to diagnose it, usually after symptoms begin. Because of the discovery, one day a DNA test could detect the disease before symptoms appear.
"A blood test to allow folks a much simpler way -- whether or not their children have the illness -- so that they can be treated appropriately would be a great relief to many parents," Lee said.
In a family where one parent has cavernous angioma, each child has a 50 percent chance of inheriting it.
"One would expect with enough families of four that two children of the four would have it," Lee said.
Doctors said knowing a child does not have the disease offers great peace of mind.
"On the other side, finding the mutation says that we can know who to carefully screen and monitor," Marchuk said.
Many families, like the Lees, hope the discovery leads to a treatment for the disorder.