Primary cilia are hair-like, non-motile sensory organelles that are found on the surface of almost all cells in vertebrates. Defects in these organelles can lead to a wide array of disorders known as ciliopathies. In this Review, Valente et al. focus on ciliopathies with major neurological involvement, describing their clinical features and known pathogenetic mechanisms, and discussing the possible aetiologies of associated brain malformations.
- Enza Maria Valente
- Rasim O. Rosti
- Joseph G. Gleeson