Molecular hallmarks of hydrocephalus

Sci Transl Med. 2025 Jun 4;17(801):eadq1810. doi: 10.1126/scitranslmed.adq1810. Epub 2025 Jun 4.

Abstract

Hydrocephalus (HC) is a failure of brain and cerebrospinal fluid (CSF) homeostasis often associated with dilation of the CSF-filled ventricles (ventriculomegaly). Hallmarks of HC include aberrant CSF dynamics, neural stem cell dysfunction resulting in impaired neurogenesis and corticogenesis, biomechanical instability at the brain-CSF interface, and disrupted synaptogenesis and neural circuitry. Pleiotropic mechanisms, including genetic and environmental insults to the brain, contribute to neurodevelopmental comorbidities. Hypothesis generation from genome-wide, single-cell multi-omic analyses coupled to experimental validation using induced pluripotent stem cell-derived cerebral organoids will refine molecular classification of HC subtypes and may lead to precision-based surgical and pharmacologic treatments.

Publication types

  • Review

MeSH terms

  • Animals
  • Brain / pathology
  • Humans
  • Hydrocephalus* / cerebrospinal fluid
  • Hydrocephalus* / genetics
  • Hydrocephalus* / metabolism
  • Hydrocephalus* / pathology
  • Neural Stem Cells / metabolism
  • Neural Stem Cells / pathology
  • Neurogenesis