Neural tube defects: recent advances, unsolved questions, and controversies
TLDR
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.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.read more
Citations
More filters
Journal ArticleDOI
Biomarkers of Nutrition for Development (BOND)-Iron Review.
Sean Lynch,Christine M. Pfeiffer,Michael K. Georgieff,Gary M. Brittenham,Susan J. Fairweather-Tait,Richard F. Hurrell,Harry J. McArdle,Daniel J Raiten +7 more
TL;DR: A full appreciation of folate's history as a public health issue, its biology, and an overview of available biomarkers and their interpretation across a range of clinical and population-based uses are provided.
Journal ArticleDOI
Neural tube defects.
TL;DR: Mechanisms underlying neural tube closure and NTDs may be informed by experimental models, which have revealed numerous genes whose abnormal function causes N TDs and have provided details of critical cellular and morphological events whose regulation is essential for closure.
Journal ArticleDOI
Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches
TL;DR: The pathogenic mechanism, associated clinical features, and imaging abnormalities vary substantially according to the affected gene and differentiating hereditary spastic paraplegia from other genetic diseases associated with spasticity can be challenging as discussed by the authors.
Journal ArticleDOI
Mechanical Coupling between Endoderm Invagination and Axis Extension in Drosophila.
Claire M. Lye,Guy B. Blanchard,Huw W. Naylor,Leila Muresan,Jan Huisken,Richard J. Adams,Bénédicte Sanson +6 more
TL;DR: It is proposed that apical constriction leading to endoderm invagination is the source of the extrinsic force contributing to germband extension, highlighting the importance of physical interactions between tissues during morphogenesis.
Journal ArticleDOI
Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice
Yun Jin Pai,Kit-Yi Leung,Dawn Savery,Tim Hutchin,Helen Prunty,Simon Heales,Margaret E. Brosnan,John T. Brosnan,Andrew J. Copp,Nicholas D. E. Greene +9 more
TL;DR: It is shown that reduced expression of Gldc in mice suppresses glycine cleavage system activity and causes two distinct disease phenotypes, and formate treatment normalizes the folate profile, restores embryonic growth and prevents NTDs, suggesting that GldC deficiency causes NTDS through limiting supply of one-carbon units from mitochondrial folate metabolism.
References
More filters
Journal ArticleDOI
Prevention of the First Occurrence of Neural-Tube Defects by Periconceptional Vitamin Supplementation
Andrew E. Czeizel,István Dudás +1 more
TL;DR: A randomized, controlled trial of periconceptional multivitamin supplementation to test the efficacy of this treatment in reducing the incidence of a first occurrence of neural-tube defects.
Journal ArticleDOI
Prevention of neural tube defects: Results of the Medical Research Council vitamin study
TL;DR: An unexplained elevated level of maternal serum alpha-fetoprotein in the second trimester of pregnancy is associated with an increased risk of subsequent fetal death, up to four to five months after alphafetoprotein screening.
Journal Article
Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group.
Journal ArticleDOI
A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele
N. Scott Adzick,Elizabeth Thom,Catherine Y. Spong,John W. Brock,Pamela K. Burrows,Mark P. Johnson,Lori J. Howell,Jody A. Farrell,Mary E. Dabrowiak,Leslie N. Sutton,Nalin Gupta,Noel Tulipan,Diana L. Farmer +12 more
TL;DR: Prenatal surgery for myelomeningocele reduced the need for shunting and improved motor outcomes at 30 months but was associated with maternal and fetal risks and increased risk of preterm delivery and uterine dehiscence at delivery.
Journal ArticleDOI
Prevention of Neural-Tube Defects with Folic Acid in China
Robert J. Berry,Zhu Li,J D Erickson,Song Li,Cynthia A. Moore,Hong Wang,Joseph Mulinare,Ping Zhao,Lee-Yang C. Wong,Jacqueline Gindler,Shi-xin Hong,Adolfo Correa +11 more
TL;DR: Evaluated the outcomes of pregnancy in women who were asked to take a pill containing 400 μg of folic acid alone daily from the time of their premarital examination until the end of their first trimester of pregnancy, and identified 102 and 173 women with neural-tube defects.