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

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

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Article number24
JournalFluids and barriers of the CNS
Issue number1
StatePublished - Dec 2024


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