alexa Neural tube defects: recent advances, unsolved questions, and controversies.
Neurology

Neurology

Journal of Alzheimers Disease & Parkinsonism

Author(s): Copp AJ, Stanier P, Greene ND

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Abstract Neural tube defects are severe congenital malformations affecting around one in every 1000 pregnancies. An innovation in clinical management has come from the finding that closure of open spina bifida lesions in utero can diminish neurological dysfunction in children. Primary prevention with folic acid has been enhanced through introduction of mandatory food fortification in some countries, although not yet in the UK. Genetic predisposition accounts for most of the risk of neural tube defects, and genes that regulate folate one-carbon metabolism and planar cell polarity have been strongly implicated. The sequence of human neural tube closure events remains controversial, but studies of mouse models of neural tube defects show that anencephaly, open spina bifida, and craniorachischisis result from failure of primary neurulation, whereas skin-covered spinal dysraphism results from defective secondary neurulation. Other malformations, such as encephalocele, are likely to be postneurulation disorders. Copyright © 2013 Elsevier Ltd. All rights reserved.
This article was published in Lancet Neurol and referenced in Journal of Alzheimers Disease & Parkinsonism

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