作者
Andrew J Copp, N Scott Adzick, Lyn S Chitty, Jack M Fletcher, Grayson N Holmbeck, Gary M Shaw
发表日期
2015/4/30
来源
Nature reviews Disease primers
卷号
1
期号
1
页码范围
1-18
出版商
Nature Publishing Group
简介
Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord involvement. The most clinically significant subtype is myelomeningocele (open spina bifida), which is a condition characterized by failure of the lumbosacral spinal neural tube to close during embryonic development. The exposed neural tissue degenerates in utero, resulting in neurological deficit that varies with the level of the lesion. Occurring in approximately 1 per 1,000 births worldwide, myelomeningocele is one of the most common congenital malformations, but its cause is largely unknown. The genetic component is estimated at 60–70%, but few causative genes have been identified to date, despite much information from mouse models. Non-genetic maternal risk factors include reduced folate intake, anticonvulsant therapy, diabetes mellitus and obesity. Primary prevention by periconceptional supplementation with folic …
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AJ Copp, NS Adzick, LS Chitty, JM Fletcher… - Nature reviews Disease primers, 2015