医学阅读软件_医学补充阅读：Braindisorderlinkedtogeneticdefect

united press international

　　thursday, may 19, 2005

　　bar harbor, maine, may 19, 2005 (united press international via comtex) —— u.s. researchers said they have discovered a rare brain condition called porencephaly can be caused by a genetic defect that weakens blood vessels.

　　the finding may help develop ways to prevent the disease, scientists at the jackson laboratory in bar harbor, maine, reported in thursday's issue of the journal science.

　　the symptoms of porencephaly usually appear shortly after birth and include mental retardation, cerebral palsy and epilepsy.

　　building on research in mice that suggested the condition was due to a mutation in a gene called col4a1, the researchers screened two families with a history of porencephaly. the col4a1 mutations were found in both families, but not in control families that did not have a history of the disease.

　　the researchers said the mutation may cause weaknesses in blood vessels in the brain that might be exacerbated by stress on the head during birth, leading to hemorrhage or bleeding in the brain, and porencephaly.

医学补充阅读：Brain disorder linked to genetic defect.doc

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