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 impairmentDysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus
Bertino F, Mukherjee D, Bonora M, Bagowski C, Nardelli J, Metani L, Venturini D, Chianese D, Santander N, Salaroglio I, Hentschel A, Quarta E, Genova T, McKinney A, Allocco A, Fiorito V, Petrillo S, Ammirata G, De Giorgio F, Dennis E, Allington G, Maier F, Shoukier M, Gloning K, Munaron L, Mussano F, Salsano E, Pareyson D, di Rocco M, Altruda F, Panagiotakos G, Kahle K, Gressens P, Riganti C, Pinton P, Roos A, Arnold T, Tolosano E, Chiabrando D. Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus. Cell Reports Medicine 2024, 5: 101647. PMID: 39019006, PMCID: PMC11293339, DOI: 10.1016/j.xcrm.2024.101647.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusCalcium handlingNeural progenitor cellsMitochondrial calcium handlingMouse neural progenitor cellsFLVCR1 geneMitochondrial calcium levelsVentricular dilatationLive birthsCalcium levelsProgenitor cellsClinical challengeVentricle enlargementPathogenetic mechanismsSevere formCortical neurogenesisNeural progenitorsFLVCR1aMitochondria-associated membranesHydrocephalusMiceFLVCR1CH genesMolecular mechanismsMetabolic activityBiomechanical instability of the brain–CSF interface in hydrocephalus
Duy P, Mehta N, Kahle K. Biomechanical instability of the brain–CSF interface in hydrocephalus. Brain 2024, 147: 3274-3285. PMID: 38798141, PMCID: PMC11449143, DOI: 10.1093/brain/awae155.Peer-Reviewed Original ResearchBrain-CSF interfaceBrain parenchymaPost-hemorrhagic hydrocephalusLow intracranial pressureAbnormal biomechanical propertiesNormal pressure hydrocephalusPost-infectiousCongenital hydrocephalusImpaired neurodevelopmentCommunicating hydrocephalusCSF homeostasisBiomechanical instabilityHydrocephalusIntracranial pressureAnimal studiesPressure hydrocephalusArachnoid granulationsPrimary derangementBrain surgeryStudy of hydrocephalusAge groupsCSF reabsorptionVentriculomegalyVentricleSecondary enlargementThe 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 injuryPathwayHydrocephalus
Reeves B, Karimy J, Duy P, Kahle K. Hydrocephalus. 2024, 335-347. DOI: 10.1017/9781108917339.025.Peer-Reviewed Original ResearchPeripheral nerve injuryDegenerative cervical myelopathyCervical myelopathyNerve injuryDisease burdenPatient prognosisPathophysiological underpinningsNeurological conditionsNeurosurgical conditionsNeurosurgical diseasesBasic neuroscienceTranslational researchKey investigative toolInvestigative toolMyelopathyHydrocephalusPrognosisClinicInjuryGliomasDiseaseSurgeonsNeurosurgeons