Duo at Jackson Lab Find Gene Mutation Work May Be Key to Rare Brain Disorder

Summary

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Researchers at The Jackson Laboratory in Bar Harbor have uncovered new information about a rare but devastating brain disorder most often identified in infants. By pinpointing the specific genetic mutation that causes the abnormality, called porencephaly, in humans as well as in lab mice, the two scientists hope their work will improve the prevention, early detection and treatment of several related vascular conditions.

Dr. Douglas Gould and Dr. Simon W.M. John said Monday that porencephaly occurs only rarely and its incidence is hard to quantify. When it does occur, the condition is devastating. Affected infants usually are identified within a year after birth, displaying symptoms such as delayed growth and development, partial paralysis, poor muscle tone, seizures and abnormally large or small heads. As they get older, these individuals may have poor or absent speech development, seizures and mental retardation.

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Extract

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Duo at Jackson Lab Find Gene Mutation Work May Be Key to Rare Brain Disorder

Scientists and medical experts know these symptoms are associated with cerebral hemorrhage - uncontrolled bleeding from the vessels that supply the brain. But why some individuals develop cere...

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