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Fluids and Barriers of the CNS
Published in: Fluids and Barriers of the CNS 1/2024

Open Access 01-12-2024 | Hydrocephalus | Review

The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact

Authors: Andrew T. Hale, Hunter Boudreau, Rishi Devulapalli, Phan Q. Duy, Travis J. Atchley, Michael C. Dewan, Mubeen Goolam, Graham Fieggen, Heather L. Spader, Anastasia A. Smith, Jeffrey P. Blount, James M. Johnston, Brandon G. Rocque, Curtis J. Rozzelle, Zechen Chong, Jennifer M. Strahle, Steven J. Schiff, Kristopher T. Kahle

Published in: Fluids and Barriers of the CNS | Issue 1/2024

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Abstract

Hydrocephalus (HC) is a heterogenous disease characterized by alterations in cerebrospinal fluid (CSF) dynamics that may cause increased intracranial pressure. HC is a component of a wide array of genetic syndromes as well as a secondary consequence of brain injury (intraventricular hemorrhage (IVH), infection, etc.) that can present across the age spectrum, highlighting the phenotypic heterogeneity of the disease. Surgical treatments include ventricular shunting and endoscopic third ventriculostomy with or without choroid plexus cauterization, both of which are prone to failure, and no effective pharmacologic treatments for HC have been developed. Thus, there is an urgent need to understand the genetic architecture and molecular pathogenesis of HC. Without this knowledge, the development of preventive, diagnostic, and therapeutic measures is impeded. However, the genetics of HC is extraordinarily complex, based on studies of varying size, scope, and rigor. This review serves to provide a comprehensive overview of genes, pathways, mechanisms, and global impact of genetics contributing to all etiologies of HC in humans.
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Metadata
Title
The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact
Authors
Andrew T. Hale
Hunter Boudreau
Rishi Devulapalli
Phan Q. Duy
Travis J. Atchley
Michael C. Dewan
Mubeen Goolam
Graham Fieggen
Heather L. Spader
Anastasia A. Smith
Jeffrey P. Blount
James M. Johnston
Brandon G. Rocque
Curtis J. Rozzelle
Zechen Chong
Jennifer M. Strahle
Steven J. Schiff
Kristopher T. Kahle
Publication date
01-12-2024
Publisher
BioMed Central
Published in
Fluids and Barriers of the CNS / Issue 1/2024
Electronic ISSN: 2045-8118
DOI
https://doi.org/10.1186/s12987-024-00513-z

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