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Primary cilia in neural development and disease.

Renfeng Zhang1, Su Pan1, Jie Zhao2

  • 1Second Hosp Jilin University, Department of Orthopedic Surgery, Changchun 130041, China.

Neurobiology of Disease
|November 9, 2025
PubMed
Summary

Primary cilia are crucial signaling hubs in nervous system development, regulating key processes like neurogenesis and neuronal migration. Defects in these organelles are linked to various neurodevelopmental disorders, highlighting their therapeutic potential.

Keywords:
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Area of Science:

  • Neuroscience
  • Cell Biology
  • Developmental Biology

Background:

  • Primary cilia, once underestimated, are now recognized as critical signaling platforms in neural development.
  • These non-motile organelles integrate multiple signaling pathways essential for nervous system patterning.

Purpose of the Study:

  • To review the structure, biogenesis, and regulation of primary cilia.
  • To examine the roles of primary cilia in neural stem cell fate, neurogenesis, neuronal migration, axon guidance, and synaptogenesis.
  • To explore the link between ciliary dysfunction and neurodevelopmental disorders.

Main Methods:

  • Systematic review of existing literature.
  • Integration of data on primary cilia structure, function, and signaling pathways (Sonic hedgehog, Wnt, Notch, mTOR).
  • Analysis of the spectrum of ciliogenesis defects and associated phenotypes.

Main Results:

  • Primary cilia orchestrate nervous system development through integrated signaling.
  • Ciliary dysfunction is implicated in ciliopathies and complex neurodevelopmental disorders (e.g., ASD, schizophrenia).
  • A spectrum of ciliogenesis defects explains diverse phenotypes, from structural malformations to functional abnormalities.

Conclusions:

  • Primary cilia are indispensable for normal nervous system development.
  • Ciliary signaling imbalances are central to neurodevelopmental disorders.
  • Future research using organoid models and advanced imaging, alongside cilia-targeted therapies, offers promise for treatment.