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

Authors
  • 1
  • 1 Neural Development Unit and Newlife Birth Defects Research Centre, UCL Institute of Child Health, London, UK. [email protected]
Type
Published Article
Journal
The Lancet. Neurology
1474-4465
Publication Date
Volume
12
Issue
8
Pages
799–810
Identifiers
DOI: 10.1016/S1474-4422(13)70110-8
PMID: 23790957
Source
Medline
License
Unknown

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.

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