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

Andrew T Hale1, Hunter Boudreau2, Rishi Devulapalli3

  • 1Department of Neurosurgery, University of Alabama at Birmingham, FOT Suite 1060, 1720 2ndAve, Birmingham, AL, 35294, UK. andrewthale@uabmc.edu.

Fluids and Barriers of the CNS
|March 4, 2024
PubMed

Insights

Hydrocephalus (HC) is a complex brain condition affecting cerebrospinal fluid (CSF) dynamics. Understanding its intricate genetics is crucial for developing new treatments for this heterogeneous disease.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatric Neurology

Background:

  • Hydrocephalus (HC) involves abnormal cerebrospinal fluid (CSF) dynamics, potentially leading to increased intracranial pressure.
  • It presents heterogeneously across ages, linked to genetic syndromes and brain injuries like intraventricular hemorrhage (IVH).
  • Current surgical treatments have high failure rates, and effective pharmacologic therapies are lacking.

Purpose of the Study:

  • To provide a comprehensive review of the genetic architecture and molecular pathogenesis of hydrocephalus.
  • To consolidate current knowledge on genes, pathways, and mechanisms contributing to diverse HC etiologies.
  • To highlight the urgent need for genetic insights to advance preventive, diagnostic, and therapeutic strategies.

Main Methods:

  • Systematic literature review of genetic studies on hydrocephalus.
  • Analysis of genetic syndromes associated with HC.
  • Examination of molecular mechanisms underlying CSF dynamics alterations.

Main Results:

  • The genetics of HC is exceptionally complex, with contributions from numerous genes and pathways.
  • Phenotypic heterogeneity of HC is underscored by its association with various genetic syndromes and injury types.
  • Existing research varies in scope and rigor, necessitating a consolidated overview.

Conclusions:

  • A deeper understanding of HC genetics is essential for developing novel interventions.
  • Further research into the molecular pathogenesis of HC is critical.
  • Addressing the genetic complexity of HC is key to improving patient outcomes.

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