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Neural tube defects: recent advances, unsolved questions, and controversies

Copp, AJ; Stanier, P; Greene, NDE; (2013) Neural tube defects: recent advances, unsolved questions, and controversies. The Lancet Neurology , 12 (8) pp. 799-810. 10.1016/S1474-4422(13)70110-8. Green open access

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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.

Type: Article
Title: Neural tube defects: recent advances, unsolved questions, and controversies
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/S1474-4422(13)70110-8
Publisher version: http://dx.doi.org/10.1016/S1474-4422(13)70110-8
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: science & technology, life sciences & biomedicine, clinical neurology, neurosciences & neurology, clinical neurology, planar-cell-polarity, folic-acid supplementation, periconceptional vitamin supplementation, Texas-Mexico border, mouse embryos, spina-bifida, loop-tail, folate-deficiency, birth-defects, methylenetetrahydrofolate reductase
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1393439
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