2020
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
Jin SC, Dong W, Kundishora AJ, Panchagnula S, Moreno-De-Luca A, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, Knight JR, Sullivan W, Duy PQ, DeSpenza T, Reeves BC, Karimy JK, Marlier A, Castaldi C, Tikhonova IR, Li B, Peña HP, Broach JR, Kabachelor EM, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake AT, Goto J, Mangano FT, Johnston JM, Butler WE, Warf BC, Smith ER, Schiff SJ, Limbrick DD, Heuer G, Jackson EM, Iskandar BJ, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan CC, Apuzzo MLJ, DiLuna ML, Hoffman EJ, Sestan N, Ment LR, Alper SL, Bilguvar K, Geschwind DH, Günel M, Lifton RP, Kahle KT. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nature Medicine 2020, 26: 1754-1765. PMID: 33077954, PMCID: PMC7871900, DOI: 10.1038/s41591-020-1090-2.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusPoor neurodevelopmental outcomesPost-surgical patientsCerebrospinal fluid accumulationNeural stem cell biologyGenetic disruptionWhole-exome sequencingPrimary pathomechanismEarly brain developmentNeurodevelopmental outcomesHigh morbidityCSF diversionMutation burdenFluid accumulationBrain ventriclesCH casesBrain developmentDe novo mutationsPatientsExome sequencingCSF dynamicsDisease mechanismsHydrocephalusNovo mutationsCell types
2010
The dynamics of brain and cerebrospinal fluid growth in normal versus hydrocephalic mice.
Mandell J, Neuberger T, Drapaca C, Webb A, Schiff S. The dynamics of brain and cerebrospinal fluid growth in normal versus hydrocephalic mice. Journal Of Neurosurgery Pediatrics 2010, 6: 1-10. PMID: 20593980, DOI: 10.3171/2010.4.peds1014.Peer-Reviewed Original ResearchMeSH KeywordsAge FactorsAlgorithmsAnimalsAnimals, NewbornBrainCephalometryCerebral AqueductCerebral VentriclesDisease Models, AnimalFourier AnalysisFrontal LobeHydrocephalusImage Processing, Computer-AssistedImaging, Three-DimensionalIntracranial PressureLateral VentriclesMagnetic Resonance ImagingMathematical ComputingMiceMice, Inbred C57BLOccipital LobeOrgan SizeReference ValuesConceptsHydrocephalic miceBrain volumeClinical outcomesBrain growthVentricle volumeDynamics of brainCortical mantle thicknessPatterns of hydrocephalusOccipital horn ratioAccumulation of CSFTransmantle pressure gradientGrowth of brainVentricular ruptureParenchymal edemaVentricular sizeC57BL/6 miceTotal brainPercutaneous injectionAdjunct useHead circumferenceNormal miceCisterna magnaCSF volumeCognitive functionSerial quantification