2025
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors
DeSpenza T, Kiziltug E, Allington G, Barson D, McGee S, O’Connor D, Robert S, Mekbib K, Nanda P, Greenberg A, Singh A, Duy P, Mandino F, Zhao S, Lynn A, Reeves B, Marlier A, Getz S, Nelson-Williams C, Shimelis H, Walsh L, Zhang J, Wang W, Prina M, OuYang A, Abdulkareem A, Smith H, Shohfi J, Mehta N, Dennis E, Reduron L, Hong J, Butler W, Carter B, Deniz E, Lake E, Constable R, Sahin M, Srivastava S, Winden K, Hoffman E, Carlson M, Gunel M, Lifton R, Alper S, Jin S, Crair M, Moreno-De-Luca A, Luikart B, Kahle K. PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. Nature Neuroscience 2025, 28: 536-557. PMID: 39994410, DOI: 10.1038/s41593-024-01865-3.Peer-Reviewed Original ResearchConceptsNeural progenitor cellsCongenital hydrocephalusCSF dynamicsIncreased CSF productionDe novo mutationsFrequent monogenic causeEverolimus treatmentCSF shuntingNonsurgical treatmentPTEN mutationsAqueductal stenosisInhibitory interneuronsVentriculomegalyProgenitor cellsChoroid plexusMonogenic causeCortical networksIncreased survivalBrain ventriclesCortical deficitsNeural progenitorsGene PTENCSF productionNkx2.1PTEN
2024
Regional variations in morbidity and mortality among neonates with intraventricular hemorrhage: a national database analysis
Sayeed S, Theriault B, Hengartner A, Serrato P, Sadeghzadeh S, Belkasim S, Ahsan N, Elsamadicy E, DiLuna M, Elsamadicy A. Regional variations in morbidity and mortality among neonates with intraventricular hemorrhage: a national database analysis. Child's Nervous System 2024, 40: 3571-3580. PMID: 38955900, DOI: 10.1007/s00381-024-06514-5.Peer-Reviewed Original ResearchNational Inpatient SampleIntraoperative variablesLong-term neurodevelopmental outcomesLow gestational ageMultivariate logistic regression analysisPermanent CSF shuntNational database analysisLow birth weightPercentage of patientsRetrospective cohort studyAssociated with decreased oddsImpact of insurance statusAssociated with reduced oddsMedian total costAssociated with mortalityLogistic regression analysisBackgroundIntraventricular hemorrhageNeonatal IVHGestational ageIntraventricular hemorrhageNeurodevelopmental outcomesCSF diversionCSF shuntingCost of admissionBirth weightPathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics
DeSpenza T, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina M, Desmet N, Dang H, Fields J, Nelson-Williams C, Zhang J, Mekbib K, Dennis E, Mehta N, Duy P, Shimelis H, Walsh L, Marlier A, Deniz E, Lake E, Constable R, Hoffman E, Lifton R, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper S, Jin S, Kahle K, Luikart B. Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2314702121. PMID: 38916997, PMCID: PMC11228466, DOI: 10.1073/pnas.2314702121.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusCerebral ventriculomegalyPathogenic variantsPrefrontal pyramidal neuronsGenetic subsets of patientsDevelopment of ventriculomegalyRadial gliaSubsets of patientsHigh-frequency firingNeuronal connectivityHeterozygous germline variantsAutism spectrum disorderVentricular-subventricular zoneMicrotubule dynamicsImpaired spermatogenesisCSF shuntingExcitatory driveMicrotubule-severing ATPasePyramidal neuronsDisrupt neuronal connectivityGermline variantsVentriculomegalyCSF homeostasisDisrupt microtubule dynamicsPlanar cell polarityPaediatric hydrocephalus
Kahle K, Klinge P, Koschnitzky J, Kulkarni A, MacAulay N, Robinson S, Schiff S, Strahle J. Paediatric hydrocephalus. Nature Reviews Disease Primers 2024, 10: 35. PMID: 38755194, DOI: 10.1038/s41572-024-00519-9.Peer-Reviewed Original ResearchConceptsSymptoms of elevated intracranial pressureCerebrospinal fluidCentral nervous system infectionChoroid plexus cauterizationEndoscopic third ventriculostomyNervous system infectionNonsurgical treatment strategiesElevated intracranial pressureLong-term outcomesNeural tube defectsCSF-brain interfaceFetal hydrocephalusUtero treatmentAcquired hydrocephalusCSF secretionSurgical closureCSF shuntingHead circumferenceThird ventriculostomyCongenital hydrocephalusAssociated with blockageGene mutationsCerebral ventricleTreatment strategiesCSF pathways157 Minimally Invasive Treatment of Idiopathic Normal Pressure Hydrocephalus Using the Endovascular eShunt Implant
Lylyk P, Matouk C, Siddiqui A, Lylyk I, Bleise C, Scrivano E, Lylyk N, Antonios J, Beneduce B, Levy E, Heilman C, Malek A. 157 Minimally Invasive Treatment of Idiopathic Normal Pressure Hydrocephalus Using the Endovascular eShunt Implant. Neurosurgery 2024, 70: 36-37. DOI: 10.1227/neu.0000000000002809_157.Peer-Reviewed Original ResearchNeurogenic Bladder Symptom ScoreComposite outcome scoreNormal pressure hydrocephalusIdiopathic normal pressure hydrocephalusOutcome scoresVentriculo-peritoneal shunt surgeryTimed Up &Treatment of idiopathic normal pressure hydrocephalusPressure hydrocephalusTreat communicating hydrocephalusFavorable risk profileFunctional outcome scoresMinimally invasive treatmentFollow-up dataMontreal Cognitive AssessmentCompared to baselineGait improvementFollow-up phaseShunt surgeryUrinary continenceCSF shuntingUrinary incontinenceElderly patientsPre-treatment scoresFollow-up
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