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Sci Rep 2019 Apr 17;91:6196. doi: 10.1038/s41598-019-42549-4.
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Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus.

Date P , Ackermann P , Furey C , Fink IB , Jonas S , Khokha MK , Kahle KT , Deniz E .

Cerebrospinal fluid (CSF) flow in the brain ventricles is critical for brain development. Altered CSF flow dynamics have been implicated in congenital hydrocephalus (CH) characterized by the potentially lethal expansion of cerebral ventricles if not treated. CH is the most common neurosurgical indication in children effecting 1 per 1000 infants. Current treatment modalities are limited to antiquated brain surgery techniques, mostly because of our poor understanding of the CH pathophysiology. We lack model systems where the interplay between ependymal cilia, embryonic CSF flow dynamics and brain development can be analyzed in depth. This is in part due to the poor accessibility of the vertebrate ventricular system to in vivo investigation. Here, we show that the genetically tractable frog Xenopus tropicalis, paired with optical coherence tomography imaging, provides new insights into CSF flow dynamics and role of ciliary dysfunction in hydrocephalus pathogenesis. We can visualize CSF flow within the multi-chambered ventricular system and detect multiple distinct polarized CSF flow fields. Using CRISPR/Cas9 gene editing, we modeled human L1CAM and CRB2 mediated aqueductal stenosis. We propose that our high-throughput platform can prove invaluable for testing candidate human CH genes to understand CH pathophysiology.

PubMed ID: 30996265
PMC ID: PMC6470164
Article link: Sci Rep
Grant support: [+]

Species referenced: Xenopus tropicalis
Genes referenced: cfap298 crb2 foxj1 foxj1.2 l1cam lat
GO keywords: cilium movement [+]
Antibodies: L1cam Ab1
Morpholinos: cfap298 MO4 foxj1 MO1

Disease Ontology terms: hydrocephalus

Article Images: [+] show captions
References [+] :
Abdelhamed, A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice. 2018, Pubmed