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.
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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 > School of Life and Medical 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 |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/1393439 |
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