Genetics and molecular pathophysiology of normal pressure hydrocephalus.
Mehta N, Maury E, Buller Z, Duy P, Fortes C, Alper S, Erson-Omay E, Kahle K. Genetics and molecular pathophysiology of normal pressure hydrocephalus. Journal Of Neurosurgery 2024, 1-7. PMID: 39178477, DOI: 10.3171/2024.5.jns24980.Peer-Reviewed Original ResearchIdiopathic normal pressure hydrocephalusNormal pressure hydrocephalusPathophysiology of idiopathic normal pressure hydrocephalusIntegrative genetic analysisPressure hydrocephalusPathophysiology of normal pressure hydrocephalusGenomic studiesGenetic analysisGenetic insightsUrinary incontinenceSurgical interventionCerebral ventricleClinical studiesFamilial casesMolecular pathophysiologyCSF dynamicsDisease pathogenesisNeuroinflammatory processesCerebral pressureHydrocephalusGeneticsCognitive impairmentThe genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact
Hale A, Boudreau H, Devulapalli R, Duy P, Atchley T, Dewan M, Goolam M, Fieggen G, Spader H, Smith A, Blount J, Johnston J, Rocque B, Rozzelle C, Chong Z, Strahle J, Schiff S, Kahle K. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact. Fluids And Barriers Of The CNS 2024, 21: 24. PMID: 38439105, PMCID: PMC10913327, DOI: 10.1186/s12987-024-00513-z.Peer-Reviewed Original ResearchConceptsCerebrospinal fluidOverview of genesEtiology of HCPathogenesis of HCChoroid plexus cauterizationEndoscopic third ventriculostomyIncreased intracranial pressureGenetic architectureGenetic basisImpact of geneticsVentricular shuntSurgical treatmentThird ventriculostomyPhenotypic heterogeneityHeterogeneous diseasePharmacological treatmentGenetic syndromesMolecular pathogenesisIntracranial pressureHydrocephalusTherapeutic measuresGenesGeneticsBrain injuryPathway