The role of primary cilia in the pathophysiology of neural tube defects

Timothy W. Vogel, Calvin S. Carter, Kingsley Abode-Iyamah, Qihong Zhang, Shenandoah Robinson

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Neural tube defects (NTDs) are a set of disorders that occur from perturbation of normal neural development. They occur in open or closed forms anywhere along the craniospinal axis and often result from a complex interaction between environmental and genetic factors. One burgeoning area of genetics research is the effect of cilia signaling on the developing neural tube and how the disruption of primary cilia leads to the development of NTDs. Recent progress has implicated the hedgehog (Hh), wingless-type integration site family (Wnt), and planar cell polarity (PCP) pathways in primary cilia as involved in normal neural tube patterning. A set of disorders involving cilia function, known as ciliopathies, offers insight into abnormal neural development. In this article, the authors discuss the common ciliopathies, such as Meckel-Gruber and Joubert syndromes, that are associated with NTDs, and review cilia-related signaling cascades responsible for mammalian neural tube development. Understanding the contribution of cilia in the formation of NTDs may provide greater insight into this common set of pediatric neurological disorders.

Original languageEnglish (US)
Article numberE2
JournalNeurosurgical focus
Issue number4
StatePublished - 2012
Externally publishedYes


  • Cilia
  • Ciliopathy
  • Development
  • Neural tube defect
  • Sonic hedgehog

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology


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