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
184 PTEN Mutations Portend Cerebral Ventriculomegaly With Autism-Like Deficits in Cortical Circuitry
DeSpenza T, Kizlitug E, Allington G, Barson D, O'Connor D, Robert S, Mekbib K, Singh A, Phan D, Nanda P, Mandino F, Constable T, Lake E, Carter B, Gunel M, Lifton R, Luikart B, Kahle K. 184 PTEN Mutations Portend Cerebral Ventriculomegaly With Autism-Like Deficits in Cortical Circuitry. Neurosurgery 2024, 70: 46-46. DOI: 10.1227/neu.0000000000002809_184.Peer-Reviewed Original ResearchWhole-exome sequencingFetal ventriculomegalyCongenital hydrocephalusExome sequencingChoroid plexus hyperplasiaMutated genesCa2+ imagingMutant mouse modelsPTEN mutantsHuman fetal brainPten mutant miceSporadic CHCerebral ventriculomegalyCSF diversionObstructive hydrocephalusCH patientsCSF secretionPharmacological mTORC1 inhibitionNeurodevelopmental assessmentRadiographic biomarkersFetal brainPTEN mutationsAqueductal stenosisPTEN deletionVentriculomegaly
2023
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus
Singh A, Allington G, Viviano S, McGee S, Kiziltug E, Ma S, Zhao S, Mekbib K, Shohfi J, Duy P, DeSpenza T, Furey C, Reeves B, Smith H, Sousa A, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi S, Alper S, Sestan N, Shimelis H, Walsh L, Lifton R, Moreno-De-Luca A, Jin S, Kruszka P, Deniz E, Kahle K. A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus. Brain 2023, 147: 1553-1570. PMID: 38128548, PMCID: PMC10994532, DOI: 10.1093/brain/awad405.Peer-Reviewed Original ResearchAqueductal stenosisDe novo variantsCardiac defectsCerebral ventriculomegalyPatient cohortFetal brain transcriptomeStructural brain disordersTranscription factor NeuroD2Large patient cohortCorpus callosum abnormalitiesHuman fetal brainOptical coherence tomographyWhole-exome sequencingNeural stem cellsCH patientsHuman hydrocephalusControl cohortClinical managementCommon disorderCallosum abnormalitiesFetal brainBrain disordersBrain surgeryCH pathogenesisPatients
2021
Comparative anatomy of dissected optic lobes, optic ventricles, midbrain tectum, collicular ventricles, and aqueduct: evolutionary modifications as potential explanation for non-tumoral aqueductal anomalies in humans
Kier E, Kalra V, Conlogue G, Filippi C, Saluja S. Comparative anatomy of dissected optic lobes, optic ventricles, midbrain tectum, collicular ventricles, and aqueduct: evolutionary modifications as potential explanation for non-tumoral aqueductal anomalies in humans. Child's Nervous System 2021, 38: 287-294. PMID: 34812897, PMCID: PMC8789712, DOI: 10.1007/s00381-021-05408-0.Peer-Reviewed Original ResearchConceptsEvolutionary modificationsVertebrate materialMammalian componentsTectum structuresAdult sharksNeocortical expansionVertebratesComparative anatomyOptic lobeRelative size changesContinuous cavityOptic ventricleMammalsSharksSize changesFrogsIguanasOccipital lobeModificationMidbrain tectumMidbrain tectum structuresTectumPotential explanationAqueductal stenosisCerebral ventricleAppendiceal neurofibroma in a patient with neurofibromatosis 1 and recurrent abdominal infections from ventriculoperitoneal shunt: a case report
Greenberg A, Choi W, Shaked O, Lee A, Berrahou I, Jacques L, Lebares C. Appendiceal neurofibroma in a patient with neurofibromatosis 1 and recurrent abdominal infections from ventriculoperitoneal shunt: a case report. Journal Of Surgical Case Reports 2021, 2021: rjab115. PMID: 33898000, PMCID: PMC8055177, DOI: 10.1093/jscr/rjab115.Peer-Reviewed Original ResearchVentriculoperitoneal shuntAppendiceal neurofibromaNeurofibromatosis 1Abdominal painDifferential diagnosis of abdominal painDiagnosis of abdominal painIntravenous antibioticsAbdominal infectionAqueductal stenosisCase reportRight hemiabdomenCross-sectional imagingDifferential diagnosisMalignant transformationEvidence-based diagnosisPathological evidenceNeurofibromasEmergency departmentVentriculoperitonealAppendectomyPainNeurofibromatosisPatientsDistal portionShunt
2019
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3
Allocco AA, Jin SC, Duy PQ, Furey CG, Zeng X, Dong W, Nelson-Williams C, Karimy JK, DeSpenza T, Hao LT, Reeves B, Haider S, Gunel M, Lifton RP, Kahle KT. Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3. Frontiers In Cellular Neuroscience 2019, 13: 425. PMID: 31616254, PMCID: PMC6775207, DOI: 10.3389/fncel.2019.00425.Peer-Reviewed Original ResearchCongenital hydrocephalusWhole-exome sequencingNeural stem cellsImmunohistochemical studyType 1 Chiari malformationUnaffected parentsStructural brain abnormalitiesAutosomal dominant neurological diseaseHuman congenital hydrocephalusCompound heterozygous mutationsPatient's unaffected parentsEmbryonic brain tissueImpaired NaAqueductal stenosisChiari malformationBrain abnormalitiesCorpus callosumMouse embryonic brainSingle patientChoroid plexusNeurological diseasesΑ3 subunitBrain tissueDifferentiated neuronsBrain developmentVisualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus
Date P, Ackermann P, Furey C, Fink IB, Jonas S, Khokha MK, Kahle KT, Deniz E. Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus. Scientific Reports 2019, 9: 6196. PMID: 30996265, PMCID: PMC6470164, DOI: 10.1038/s41598-019-42549-4.Peer-Reviewed Original ResearchConceptsCSF flow dynamicsCongenital hydrocephalusOptical coherence tomographyCH pathophysiologyVentricular systemCoherence tomographyBrain developmentCurrent treatment modalitiesHuman congenital hydrocephalusCerebrospinal fluid flowAqueductal stenosisCerebral ventricleNeurosurgical indicationsTreatment modalitiesSurgery techniquesBrain ventriclesEpendymal ciliaCSF flowCiliary dysfunctionHuman L1CAMHydrocephalus pathogenesisVivo investigationsHydrocephalusPathophysiologyVentricle
1984
Posthemorrhagic hydrocephalus. Low incidence in very low birth weight neonates with intraventricular hemorrhage.
Ment L, Duncan C, Scott D, Ehrenkranz R. Posthemorrhagic hydrocephalus. Low incidence in very low birth weight neonates with intraventricular hemorrhage. Journal Of Neurosurgery 1984, 60: 343-7. PMID: 6693962, DOI: 10.3171/jns.1984.60.2.0343.Peer-Reviewed Original ResearchConceptsIntraventricular hemorrhagePosthemorrhagic hydrocephalusLong-term neurodevelopmental handicapsNewborn Special Care UnitLow birth weight neonatesCranial ultrasound scanningCranial ultrasound studiesBirth weight neonatesBirth weight rangeCongenital aqueductal stenosisElevated intracranial pressureSpecial care unitsOccipitofrontal head circumferenceNon-hemorrhage groupNeurodevelopmental handicapPreterm infantsWeight neonatesCare unitPostnatal hoursAqueductal stenosisBirth weightEqual incidenceIntracranial pressureHead circumferenceGerminal matrix
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