2024
Single-Cell Transcriptomic Analyses of Brain Parenchyma in Patients With New-Onset Refractory Status Epilepticus (NORSE)
Hanin A, Zhang L, Huttner A, Plu I, Mathon B, Bielle F, Navarro V, Hirsch L, Hafler D. Single-Cell Transcriptomic Analyses of Brain Parenchyma in Patients With New-Onset Refractory Status Epilepticus (NORSE). Neurology Neuroimmunology & Neuroinflammation 2024, 11: e200259. PMID: 38810181, PMCID: PMC11139018, DOI: 10.1212/nxi.0000000000200259.Peer-Reviewed Original ResearchConceptsNew-onset refractory status epilepticusTemporal lobe epilepsyGABAergic neuronsExcitatory neuronsInfiltrating macrophagesProportion of GABAergic neuronsChronic temporal lobe epilepsyRefractory status epilepticusInhibitory GABAergic neuronsSingle-cell transcriptome analysisDecreased expression of genesDegree of demyelinationImmune disturbancesNeuronal excitabilityImmune dysregulationNew-onsetStatus epilepticusPoor outcomeRefractory epilepsyHealthy childrenMicroglial reactivitySingle-nucleus RNA sequencingNLRP3 inflammasome activationInflammatory responseLobe epilepsy
2022
Alzheimer disease neuropathology in a patient previously treated with aducanumab
Plowey ED, Bussiere T, Rajagovindan R, Sebalusky J, Hamann S, von Hehn C, Castrillo-Viguera C, Sandrock A, Budd Haeberlein S, van Dyck CH, Huttner A. Alzheimer disease neuropathology in a patient previously treated with aducanumab. Acta Neuropathologica 2022, 144: 143-153. PMID: 35581440, PMCID: PMC9217863, DOI: 10.1007/s00401-022-02433-4.Peer-Reviewed Original ResearchConceptsAmyloid-related imaging abnormalitiesLong-term extensionStandard uptake value ratioAlzheimer's diseaseAmyloid positron emission tomographyBraak stage VPhase 1b studyPhospho-tau immunohistochemistryPostmortem neuropathologic examinationSpecies of AβAD neuropathologic changeFirst autopsy reportAlzheimer's disease neuropathologyUptake value ratioAmyloid PET scanMild Alzheimer's diseasePositron emission tomographyLast doseReactive microgliaNeuropathologic evidenceNeuropathologic examinationPlacebo armImaging abnormalitiesMonthly dosesNeuropathologic changes
2021
Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination
Omer S, Jin SC, Koumangoye R, Robert SM, Duran D, Nelson‐Williams C, Huttner A, DiLuna M, Kahle KT, Delpire E. Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination. Clinical Genetics 2021, 100: 176-186. PMID: 33904160, DOI: 10.1111/cge.13973.Peer-Reviewed Original ResearchConceptsProtein kinase D1Kainate-induced seizure activityHomozygote micePeripheral nerve diseaseWild-type miceBrain hyperexcitabilityPatient's epilepsyPeripheral neuropathyNerve diseaseSeizure activityHuman epilepsyCotransporter 3Nervous systemProgressive epilepsyHeterozygote miceHuman nervous systemPKD1 variantsMiceEpilepsyInactivating variantPotential targetSignificant increaseNovel roleDiseaseLocomotor behaviorExome sequencing identifies SLIT2 variants in primary CNS lymphoma
Kaulen LD, Erson‐Omay E, Henegariu O, Karschnia P, Huttner A, Günel M, Baehring JM. Exome sequencing identifies SLIT2 variants in primary CNS lymphoma. British Journal Of Haematology 2021, 193: 375-379. PMID: 33481259, DOI: 10.1111/bjh.17319.Peer-Reviewed Original ResearchConceptsPrimary central nervous system lymphomaShorter progression-free survivalCentral nervous system lymphomaRole of SLIT2Primary CNS lymphomaProgression-free survivalLarger validation cohortNervous system lymphomaShorter overall survivalPossible prognostic implicationsWarrants further investigationCNS lymphomaTumor DNA samplesOverall survivalPCNSL patientsSystem lymphomaPrognostic implicationsValidation cohortPCNSL pathogenesisLymphoid malignanciesFunction variantsTumor suppressor geneExome sequencingLuciferase assayLymphomaNeuroinvasion of SARS-CoV-2 in human and mouse brain
Song E, Zhang C, Israelow B, Lu-Culligan A, Prado AV, Skriabine S, Lu P, Weizman OE, Liu F, Dai Y, Szigeti-Buck K, Yasumoto Y, Wang G, Castaldi C, Heltke J, Ng E, Wheeler J, Alfajaro MM, Levavasseur E, Fontes B, Ravindra NG, Van Dijk D, Mane S, Gunel M, Ring A, Kazmi SAJ, Zhang K, Wilen CB, Horvath TL, Plu I, Haik S, Thomas JL, Louvi A, Farhadian SF, Huttner A, Seilhean D, Renier N, Bilguvar K, Iwasaki A. Neuroinvasion of SARS-CoV-2 in human and mouse brain. Journal Of Experimental Medicine 2021, 218: e20202135. PMID: 33433624, PMCID: PMC7808299, DOI: 10.1084/jem.20202135.Peer-Reviewed Original ResearchConceptsSARS-CoV-2Central nervous systemSARS-CoV-2 neuroinvasionImmune cell infiltratesCOVID-19 patientsType I interferon responseMultiple organ systemsCOVID-19I interferon responseHuman brain organoidsNeuroinvasive capacityCNS infectionsCell infiltrateNeuronal infectionPathological featuresCortical neuronsRespiratory diseaseDirect infectionCerebrospinal fluidNervous systemMouse brainInterferon responseOrgan systemsHuman ACE2Infection
2020
Differential expression of the T-cell inhibitor TIGIT in glioblastoma and MS
Lucca LE, Lerner BA, Park C, DeBartolo D, Harnett B, Kumar VP, Ponath G, Raddassi K, Huttner A, Hafler DA, Pitt D. Differential expression of the T-cell inhibitor TIGIT in glioblastoma and MS. Neurology Neuroimmunology & Neuroinflammation 2020, 7: e712. PMID: 32269065, PMCID: PMC7188477, DOI: 10.1212/nxi.0000000000000712.Peer-Reviewed Original ResearchConceptsTumor-infiltrating T cellsT cellsPD-1/PD-L1Anti-TIGIT therapyExpression of CD226Expression of TIGITPostmortem CNS tissueLymphocytes of patientsFresh surgical resectionsLigand CD155TIGIT expressionSurgical resectionPD-1PD-L1CNS diseaseHealthy controlsHealthy donorsLymphocytic expressionImmune responseCNS tissueMS lesionsTIGITImmune pathwaysPatientsGlioblastoma multiformeClinical characteristics of fibroblast growth factor receptor 3 antibody‐related polyneuropathy: a retrospective study
Kovvuru S, Cardenas Y, Huttner A, Nowak R, Roy B. Clinical characteristics of fibroblast growth factor receptor 3 antibody‐related polyneuropathy: a retrospective study. European Journal Of Neurology 2020, 27: 1310-1318. PMID: 32068339, DOI: 10.1111/ene.14180.Peer-Reviewed Original ResearchConceptsChronic inflammatory neuropathiesInflammatory neuropathiesSensory neuropathyFGFR3 antibodiesDistal lower extremity weaknessIntravenous immunoglobulin responseLower extremity paresthesiasCommon presenting symptomLower extremity weaknessRetrospective chart reviewPure sensory neuropathyHistory of cancerDistal sensationMotor findingsPresenting symptomChart reviewClinical characteristicsDemyelinating featuresNerve biopsySymptom onsetUnsteady gaitClinical presentationFoot dropRetrospective studyAutoimmune diseasesPrimary dural lymphomas: Clinical presentation, management, and outcome
Karschnia P, Batchelor TT, Jordan JT, Shaw B, Winter SF, Barbiero FJ, Kaulen LD, Thon N, Tonn J, Huttner AJ, Fulbright RK, Loeffler J, Dietrich J, Baehring JM. Primary dural lymphomas: Clinical presentation, management, and outcome. Cancer 2020, 126: 2811-2820. PMID: 32176324, DOI: 10.1002/cncr.32834.Peer-Reviewed Original ResearchConceptsPrimary dural lymphomaPrimary CNS lymphomaNon-Hodgkin lymphomaCNS lymphomaOverall survivalDural lymphomaPrimary central nervous system lymphomaT-cell non-Hodgkin lymphomaB-cell non-Hodgkin lymphomaCentral nervous system lymphomaLarge B-cell lymphomaMedian apparent diffusion coefficient (ADC) valuesAvid contrast enhancementMedian overall survivalCerebrospinal fluid analysisNervous system lymphomaMarginal zone lymphomaB-cell lymphomaExtra-axial massApparent diffusion coefficient (ADC) valuesMassachusetts General HospitalAggressive surgeryMultimodality treatmentSystem lymphomaSystemic involvementA Rare Case of a Pediatric Medullary Intracranial Germinoma
Seifert K, Huttner A, Malhotra A. A Rare Case of a Pediatric Medullary Intracranial Germinoma. World Neurosurgery 2020, 138: 137-140. PMID: 32147555, DOI: 10.1016/j.wneu.2020.02.147.Peer-Reviewed Original ResearchMRI-Guided Laser Interstitial Thermal Therapy for Radiation Necrosis in Previously Irradiated Brain Arteriovenous Malformations
Hong CS, Cord BJ, Kundishora AJ, Elsamadicy AA, Beckta JM, Huttner A, Chiang VL, Matouk CC. MRI-Guided Laser Interstitial Thermal Therapy for Radiation Necrosis in Previously Irradiated Brain Arteriovenous Malformations. Practical Radiation Oncology 2020, 10: e298-e303. PMID: 32068154, DOI: 10.1016/j.prro.2020.02.003.Peer-Reviewed Original Research
2019
Somatic PRKAR1A mutation in sporadic atrial myxoma with cerebral parenchymal metastases: a case report
Roque A, Kimbrough T, Traner C, Baehring JM, Huttner A, Adams J, Canosa S, Sklar J, Madri JA. Somatic PRKAR1A mutation in sporadic atrial myxoma with cerebral parenchymal metastases: a case report. Journal Of Medical Case Reports 2019, 13: 389. PMID: 31874650, PMCID: PMC6930684, DOI: 10.1186/s13256-019-2317-z.Peer-Reviewed Original ResearchMeSH KeywordsBrain NeoplasmsCarney ComplexChemoradiotherapyCyclic AMP-Dependent Protein Kinase RIalpha SubunitDopamine AgentsExome SequencingFemaleGene Expression Regulation, NeoplasticGenes, Tumor SuppressorGerm-Line MutationHeart NeoplasmsHumansIntracranial HemorrhagesMemantineMiddle AgedMyxomaTreatment OutcomeConceptsAtrial myxomaSporadic tumorsExtra-cardiac complicationsMetastatic cardiac myxomaMajority of tumorsDissemination of tumorsIntracranial hemorrhagic lesionsWhole-exome sequencingAutosomal dominant conditionConclusionsOur patientsSporadic myxomasInvasive tumor cellsParenchymal metastasesCardiac myxomaCase reportClinical behaviorHemorrhagic lesionsAneurysm formationBenign neoplasmsMyxomaSporadic lesionsVascular wallCarney complexTumorsGermline mutationsPrognostic markers for immunodeficiency-associated primary central nervous system lymphoma
Kaulen LD, Galluzzo D, Hui P, Barbiero F, Karschnia P, Huttner A, Fulbright R, Baehring JM. Prognostic markers for immunodeficiency-associated primary central nervous system lymphoma. Journal Of Neuro-Oncology 2019, 144: 107-115. PMID: 31190317, DOI: 10.1007/s11060-019-03208-w.Peer-Reviewed Original ResearchConceptsPrimary central nervous system lymphomaDiffusion-weighted imaging patternsMagnetic resonance imagingCentral nervous system lymphomaNervous system lymphomaSystem lymphomaPeripheral enhancementDWI patternsPCNSL casesImaging featuresPrognostic markerHuman immunodeficiency virus (HIV) infectionKaplan-Meier survival analysisDiffuse large B-cell lymphomaYale-New Haven HospitalLarge B-cell lymphomaMedian overall survivalImmunodeficiency virus infectionPredictors of survivalSolid organ transplantationImmunoglobulin heavy chain gene rearrangementPeripheral contrast enhancementLog-rank testMajor risk factorHeavy chain gene rearrangement
2018
Clinical Reasoning
Karschnia P, Fulbright RK, Laurans MS, Huttner AJ, Baehring JM. Clinical Reasoning. Neurology 2018, 91: e1262-e1264. PMID: 30249680, PMCID: PMC6161549, DOI: 10.1212/wnl.0000000000006242.Peer-Reviewed Original ResearchMetabolic regulation and glucose sensitivity of cortical radial glial cells
Rash BG, Micali N, Huttner AJ, Morozov YM, Horvath TL, Rakic P. Metabolic regulation and glucose sensitivity of cortical radial glial cells. Proceedings Of The National Academy Of Sciences Of The United States Of America 2018, 115: 10142-10147. PMID: 30224493, PMCID: PMC6176632, DOI: 10.1073/pnas.1808066115.Peer-Reviewed Original ResearchConceptsRadial glial cellsGlial cellsRGC fibersCortical radial glial cellsEmbryonic cortical slicesGestational obesityCerebral cortexCortical slicesMetabolic disturbancesCortical neurogenesisMetabolic supportBrain disordersAcute lossMitochondrial transportBrain developmentIntracellular CaPotential mechanismsHyperglycemiaMitochondrial functionGlucose sensitivityMiceStem cellsPrimary stem cellsPhysiological mechanismsCellsDe novo MYH9 mutation in congenital scalp hemangioma
Fomchenko EI, Duran D, Jin SC, Dong W, Erson-Omay EZ, Antwi P, Allocco A, Gaillard JR, Huttner A, Gunel M, DiLuna ML, Kahle KT. De novo MYH9 mutation in congenital scalp hemangioma. Molecular Case Studies 2018, 4: a002998. PMID: 29903892, PMCID: PMC6071566, DOI: 10.1101/mcs.a002998.Peer-Reviewed Original ResearchResponse to the BRAF/MEK inhibitors dabrafenib/trametinib in an adolescent with a BRAF V600E mutated anaplastic ganglioglioma intolerant to vemurafenib
Marks AM, Bindra RS, DiLuna ML, Huttner A, Jairam V, Kahle KT, Kieran MW. Response to the BRAF/MEK inhibitors dabrafenib/trametinib in an adolescent with a BRAF V600E mutated anaplastic ganglioglioma intolerant to vemurafenib. Pediatric Blood & Cancer 2018, 65: e26969. PMID: 29380516, DOI: 10.1002/pbc.26969.Peer-Reviewed Original ResearchConceptsAnaplastic gangliogliomaBRAF/MEK inhibitor combinationsBRAF V600ESubsequent tumor responseDabrafenib/trametinibLarge clinical trialsSquamous cell carcinomaMEK inhibitor combinationsSignificant side effectsSignificant skin reactionsCell carcinomaCase reportSkin reactionsTumor responseClinical trialsBrain tumorsInhibitor combinationsSide effectsAdolescent femalesGangliogliomaTrametinibPrevious reactionsV600EMonotherapyRash
2017
Long-term outcomes of tissue-based ACTH-antibody assay-guided transsphenoidal resection of pituitary adenomas in Cushing disease.
Erfe JM, Perry A, McClaskey J, Inzucchi SE, James WS, Eid T, Bronen RA, Mahajan A, Huttner A, Santos F, Spencer D. Long-term outcomes of tissue-based ACTH-antibody assay-guided transsphenoidal resection of pituitary adenomas in Cushing disease. Journal Of Neurosurgery 2017, 129: 629-641. PMID: 29027854, DOI: 10.3171/2017.3.jns162245.Peer-Reviewed Original ResearchConceptsTranssphenoidal resectionMRI studiesCushing's diseaseCortisol levelsLong-term corticosteroid therapyUrinary free cortisol levelsLong-term disease remissionLong-term patient outcomesResults Fourteen patientsLong-term outcomesPostoperative MRI studiesSurgical tumor samplesFree cortisol levelsPreoperative MRI studiesPrecise tumor localizationACTH antibodiesPituitary microCorticosteroid therapyStudy patientsDisease remissionFourteen patientsRemission rateRetrospective reviewTreatment failureCure rateLeiomyosarcoma of the infratemporal fossa with perineurial spread along the right mandibular nerve: a case report
Barbiero FJ, Huttner AJ, Judson BL, Baehring JM. Leiomyosarcoma of the infratemporal fossa with perineurial spread along the right mandibular nerve: a case report. CNS Oncology 2017, 06: 281-285. PMID: 28990793, PMCID: PMC6004886, DOI: 10.2217/cns-2017-0004.Peer-Reviewed Original ResearchConceptsMandibular nerveRight mandibular nerveRight cavernous sinusSmooth muscle differentiationNerve biopsyCase reportMass lesionNeck cancerCavernous sinusMalignant tumorsGI tractInfratemporal fossaMedical literatureLeiomyosarcomaSkin appendagesSimilar casesNerveTumorsMuscle differentiationPeculiar patternDiplopiaHeadacheBiopsyPatientsMyometriumNeurolymphomatosis of the thoracic sympathetic chain
Kaulen LD, Foss FM, Fulbright RK, Huttner A, Baehring JM. Neurolymphomatosis of the thoracic sympathetic chain. Neurology 2017, 89: 1926-1927. PMID: 28939669, PMCID: PMC5664295, DOI: 10.1212/wnl.0000000000004600.Peer-Reviewed Original ResearchSOX2 immunity and tissue resident memory in children and young adults with glioma
Vasquez JC, Huttner A, Zhang L, Marks A, Chan A, Baehring JM, Kahle KT, Dhodapkar KM. SOX2 immunity and tissue resident memory in children and young adults with glioma. Journal Of Neuro-Oncology 2017, 134: 41-53. PMID: 28620836, PMCID: PMC7906294, DOI: 10.1007/s11060-017-2515-8.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge FactorsAntigen-Presenting CellsB7-H1 AntigenBrain NeoplasmsCell ProliferationChildChild, PreschoolCytokinesFemaleFlow CytometryGliomaHumansInfantMaleMyeloid CellsProgrammed Cell Death 1 ReceptorReceptors, ImmunologicRNA, Small InterferingSOXB1 Transcription FactorsT-LymphocytesTransfectionYoung AdultConceptsPediatric glial tumorsGlial tumorsT cellsExpression of SOX2Inhibitory checkpointsCD8/CD4 T cellsTissue-resident memory phenotypeTumor-infiltrating immune cellsTumor-infiltrating T cellsTumor cellsYoung adultsResident memory phenotypeTissue-resident memoryAnti-tumor immunityT cell immunityCD4 T cellsNatural killer cellsGlial tumor cellsNew antigenic targetsSingle-cell mass cytometryHigh mutation burdenStem cell antigenGlioma initiating cellsImmune checkpointsPD-1