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Science / Medicine

Developments in Brief : Gene Source Found for 'Elephant Man' Disease

September 20, 1987|Compiled from Times staff and wire service reports

In a step that may help fight tumors of the brain and nerves, scientists said last week that they have found the approximate location of a defective gene that causes a rare form of "Elephant Man's disease."

Further work also could lead to tests that detect the inherited gene before appearance of symptoms of the disease, bilateral acoustic neurofibromatosis, or even before birth, they wrote in the British science journal Nature.

Early detection could allow surgery to head off permanent nerve damage, said the researchers, from Harvard Medical School, the University of South Alabama and Indiana University.

Bilateral acoustic neurofibromatosis occurs in one out of every 50,000 births. It causes multiple tumors on the cranial and spinal nerves, producing deafness, balance disorder and paralysis that can require multiple surgeries in the teens or early adulthood.

Apart from helping treatment of the disease, the finding could point toward a cure for a number of forms of neural tumors, said Allan Rubenstein, medical director of the National Neurofibromatosis Foundation.

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