Year: 2024
Type: review
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.
Source: Fluids and Barriers of the CNS
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
Institutions: University of Alabama at Birmingham, University of Virginia Medical Center, University of Virginia, Monroe Carell Jr. Children's Hospital, Vanderbilt University, Vanderbilt University Medical Center, University of Cape Town, Red Cross War Memorial Children's Hospital, Children's of Alabama, St. Louis Children's Hospital, Washington University in St. Louis, Yale University, Harvard University, Massachusetts General Hospital
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,290
Awards: Understanding the mechanisms of congenital hydrocephalus using genomic sequencing approaches, G5587526097, Ependymal Dysfunction in Neonatal Post-Hemorrhagic Hydrocephalus, Modulation of Choroid Plexus Immuno-secretory Function to Restore Cerebrospinal Fluid Homeostasis in Hydrocephalus, Neurocognitive outcomes and changes in brain and CSF volume after treatment of post-infectious hydrocephalus in Ugandan infants by shunting or ETV/CPC: a randomized prospective trial
OpenAlex ID: W4392429326