Cilia in hereditary cerebral anomalies
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Updated: Jan 23, 2026

Simple Detection of Primary Cilia by Immunofluorescence
Published on: May 15, 2020
Sophie Thomas1, Lucile Boutaud1, Madeline Louise Reilly2,3
1Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Paris Descartes University, Imagine Institute, 75015, Paris, France.
Abstract:
Ciliopathies are complex genetic multi-system disorders causally related to abnormal assembly or function of motile or non-motile cilia. While most human cells possess a non-motile sensory/primary cilium (PC) during development and/or in adult tissues, motile cilia are restricted to specialised cells. As a result, PC-associated ciliopathies are characterised by high phenotypic variability with extensive clinical and genetic overlaps. In the present review, we have focused on cerebral developmental anomalies, which are commonly found in PC-associated ciliopathies and which have mostly been linked to Hedgehog signalling defects. In addition, we have reviewed emerging evidence that PC dysfunctions could be directly or indirectly involved in the mechanisms underlying malformations of cerebral cortical development including primary microcephaly.
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