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
2021
Neuroinvasion 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 involvementMRI-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 mutationsClinical Reasoning: Progressive proximal weakness in a 56-year-old man with bone pain
Torabi T, Huttner A, Nowak RJ, Roy B. Clinical Reasoning: Progressive proximal weakness in a 56-year-old man with bone pain. Neurology 2019, 93: 939-944. PMID: 31740511, DOI: 10.1212/wnl.0000000000008535.Peer-Reviewed Original ResearchDiagnosis, DifferentialElectromyographyFrontotemporal DementiaHumansLambert-Eaton Myasthenic SyndromeMaleMiddle AgedMuscle WeaknessMuscular Dystrophies, Limb-GirdleMyositisMyositis, Inclusion BodyOsteitis DeformansPainPolyradiculoneuropathy, Chronic Inflammatory DemyelinatingValosin Containing ProteinPrognostic 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 Research
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 Research
2014
B cells populating the multiple sclerosis brain mature in the draining cervical lymph nodes
Stern JN, Yaari G, Vander Heiden JA, Church G, Donahue WF, Hintzen RQ, Huttner AJ, Laman JD, Nagra RM, Nylander A, Pitt D, Ramanan S, Siddiqui BA, Vigneault F, Kleinstein SH, Hafler DA, O'Connor KC. B cells populating the multiple sclerosis brain mature in the draining cervical lymph nodes. Science Translational Medicine 2014, 6: 248ra107. PMID: 25100741, PMCID: PMC4388137, DOI: 10.1126/scitranslmed.3008879.Peer-Reviewed Original ResearchConceptsCervical lymph nodesCentral nervous systemB cellsCerebrospinal fluidLymph nodesMultiple sclerosisLymphoid tissueCNS of patientsCNS B cellsAntigen-experienced B cellsMultiple sclerosis brainSecondary lymphoid tissuesB cell compartmentB cell trafficB cell maturationImmunomodulatory therapyImmune infiltratesPeripheral bloodInflammatory diseasesLymphocyte transmigrationPeripheral tissuesNervous systemMembers of clonesCell maturationCell trafficTranscriptome Analysis of the Human Striatum in Tourette Syndrome
Lennington JB, Coppola G, Kataoka-Sasaki Y, Fernandez TV, Palejev D, Li Y, Huttner A, Pletikos M, Sestan N, Leckman JF, Vaccarino FM. Transcriptome Analysis of the Human Striatum in Tourette Syndrome. Biological Psychiatry 2014, 79: 372-382. PMID: 25199956, PMCID: PMC4305353, DOI: 10.1016/j.biopsych.2014.07.018.Peer-Reviewed Original ResearchConceptsCopy number variantsGenome-wide association studiesGene coexpression modulesNumber variantsGene network analysisCommon genetic variantsCoexpression modulesUpregulated genesMetabolism modulesImmune-related genesNetwork analysisAssociation studiesDifferential expressionUpregulated modulesGenetic variantsGenesPatient's striatumTS individualsTranscriptomeVariantsMetabolic alterationsSame regionGamma-aminobutyric acidergic interneuronsTranscriptsRNA
2012
55‐YEAR‐OLD FEMALE WITH LOW BACK PAIN
Lin N, Huttner A, Spieler P, Claus EB, Kesari S. 55‐YEAR‐OLD FEMALE WITH LOW BACK PAIN. Brain Pathology 2012, 22: 427-428. PMID: 22497615, PMCID: PMC8029100, DOI: 10.1111/j.1750-3639.2012.00589.x.Peer-Reviewed Original Research
2011
Spatio-temporal transcriptome of the human brain
Kang HJ, Kawasawa YI, Cheng F, Zhu Y, Xu X, Li M, Sousa AM, Pletikos M, Meyer KA, Sedmak G, Guennel T, Shin Y, Johnson MB, Krsnik Ž, Mayer S, Fertuzinhos S, Umlauf S, Lisgo SN, Vortmeyer A, Weinberger DR, Mane S, Hyde TM, Huttner A, Reimers M, Kleinman JE, Šestan N. Spatio-temporal transcriptome of the human brain. Nature 2011, 478: 483-489. PMID: 22031440, PMCID: PMC3566780, DOI: 10.1038/nature10523.Peer-Reviewed Original Research
1996
Relationship between camp induced inhibition of human meningioma cell proliferation and autocrine secretion of interleukin-6
Hüttner A, Lei T, Fahlbusch R, Schrell U, Adams E. Relationship between camp induced inhibition of human meningioma cell proliferation and autocrine secretion of interleukin-6. Life Sciences 1996, 58: 1323-1329. PMID: 8614289, DOI: 10.1016/0024-3205(96)00098-7.Peer-Reviewed Original ResearchConceptsInterleukin-6Intracellular cAMP levelsMeningioma proliferationCAMP levelsHuman meningioma cell proliferationAdenylyl cyclase-cAMP systemCultured meningioma cellsElevated intracellular cAMP levelsIL6 secretionMeningioma cell culturesInhibitory factorCholera toxinMeningioma cellsInhibitory effectAutocrine secretionMeningioma cell proliferationCell proliferationSecretionPotential rolePolyclonal antibodiesProliferationSimilar effectsCell culturesInhibitionPrevious studies