AANS Neurosurgeon | Volume 26, Number 4, 2017

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Scientists Show How Defects in Blood-brain Barrier Could Cause Neurological Disorder

First ‘disease in a dish’ model of Allan-Herndon-Dudley syndrome may shed light on common neurological diseases

Scientists for the first time have assembled a “disease in a dish” model that pinpoints how a defect in the blood-brain barrier can produce an incurable psychomotor disorder, Allan-Herndon-Dudley syndrome. The findings point to a path for treating this syndrome and hold promise for analyzing other neurological diseases. The blood-brain barrier, formed by blood vessels, protects the brain from toxins circulating in the body’s blood system. It also can keep out therapeutic drugs and, when defective, biomolecules that are needed for healthy brain development. The latter is what happens in Allan-Herndon-Dudley syndrome, according to investigators from Cedars-Sinai and the University of Wisconsin-Madison. The rare, congenital syndrome causes cognitive disability, impaired speech and underdeveloped muscles, among other symptoms.

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