2023
The radiologically isolated syndrome: revised diagnostic criteria
Lebrun-Frénay C, Okuda D, Siva A, Landes-Chateau C, Azevedo C, Mondot L, Carra-Dallière C, Zephir H, Louapre C, Durand-Dubief F, Le Page E, Bensa C, Ruet A, Ciron J, Laplaud D, Casez O, Mathey G, de Seze J, Zeydan B, Makhani N, Tutuncu M, Levraut M, Cohen M, Thouvenot E, Pelletier D, Kantarci O. The radiologically isolated syndrome: revised diagnostic criteria. Brain 2023, 146: 3431-3443. PMID: 36864688, PMCID: PMC11004931, DOI: 10.1093/brain/awad073.Peer-Reviewed Original ResearchConceptsRadiologically isolated syndromeClinical eventsGroup 1Risk factorsDIS criteriaPresence of spinal cord lesionsClinical follow-up timeCSF-restricted oligoclonal bandsMultivariate Cox regression modelDiagnostic criteriaFocal T2 hyperintensitiesGadolinium-enhancing lesionsMultiple sclerosisNegative predictive valueFollow-up scansFollow-up timeArea under the curveClass I evidenceSpinal cord lesionsCox regression modelsRisk of developmentWhite matter lesionsProspective databaseSymptomatic MST2 lesions
2021
Risk Factors and Time to Clinical Symptoms of Multiple Sclerosis Among Patients With Radiologically Isolated Syndrome
Lebrun-Frénay C, Rollot F, Mondot L, Zephir H, Louapre C, Le Page E, Durand-Dubief F, Labauge P, Bensa C, Thouvenot E, Laplaud D, de Seze J, Ciron J, Bourre B, Cabre P, Casez O, Ruet A, Mathey G, Berger E, Moreau T, Al Khedr A, Derache N, Clavelou P, Guennoc AM, Créange A, Neau JP, Tourbah A, Camdessanché JP, Maarouf A, Callier C, Vermersch P, Kantarci O, Siva A, Azevedo C, Makhani N, Cohen M, Pelletier D, Okuda D, Vukusic S, Kantarci O, Siva A, Pelletier D, Okuda D, Azevedo C, Makhani N, Radji F, Morel N, Grosset-Jeannin D, Ungureanu A, Boyer L, Suchet L, Elias Z, Lebrun-Frénay C, Cohen M, Mondot L, Thouvenot E, Ciron J, Durand-Dubief F, Brochet B, Ruet A, Ouallet J, Defer G, Branger P, Derache N, Clavelou P, Taithe F, Alkhedr A, Fromont A, Moreau T, Tourbah A, Casez O, Berger E, Zephir H, Outteryck O, Vermersch P, Hautecoeur P, Androdias G, Ionescu I, Pelletier J, Audoin B, Maarouf A, Ayrignac X, Carra-Dalliere C, Labauge P, Debouverie M, Mathey G, Cabre P, Laplaud D, Wiertlevski S, Bresch S, Castelnovo G, Papeix C, Louapre C, Maillart E, Lubetzki C, Stankoff B, Fontaine B, Giannesini C, Heinzleff O, Créange A, Bourre B, Gout O, Guegen A, Bensa C, Le Page E, Michel L, Magy L, De Seze J, Collongues N, Leray E, Guennoc A, Biotti D, Camdessanché J, De Broucker T, Sehaki S, Devys-Meyer N, Bereau M, Cappe C, Kounkou K, Dumont E, Lescieux E, Protin A, Kane M, Boucher J, Petit J, Tabellah Kasonde I, De Vilmarrest A, Nicol M, Malbezin M, Olaiz J, Rigaud-Bully C, Casey R, Rollot F, Vukusic I, Debard N, Cotton F, Abdelalli A, Di Lelio B, Pinna F, Guillemin F, Ziegler A, Callier C, Zehrouni K, Hodel J, Wahab A, Zedet M, Fagniez O, Laage C, Pottier C, Slesari I, Sampaio M, Neau J, Rabois E, Castex C, Hebant B, Guillaume M, Vimont C, Muraz R, Le Port D, Henry C, Berthe C, Freitas N, Visneux V, Forestier M, Beltran S, Meunier G, Servan J, Pico F, Chatagner V. Risk Factors and Time to Clinical Symptoms of Multiple Sclerosis Among Patients With Radiologically Isolated Syndrome. JAMA Network Open 2021, 4: e2128271. PMID: 34633424, PMCID: PMC8506228, DOI: 10.1001/jamanetworkopen.2021.28271.Peer-Reviewed Original ResearchConceptsGadolinium-enhancing lesionsSpinal cord lesionsClinical eventsMultiple sclerosisRisk of conversionCord lesionsRisk factorsMRI scansPhase III clinical trialsMagnetic resonance imaging (MRI) scansEarly clinical diseaseFirst clinical eventDisease-modifying therapiesEarly clinical eventsSpinal cord involvementAge 37 yearsResonance imaging scansPotential treatment effectsMS careCohort studyCord involvementStudy entryTertiary centerClinical symptomsOligoclonal bands
2020
Radiologically Isolated Syndrome: 10‐Year Risk Estimate of a Clinical Event
Lebrun‐Frenay C, Kantarci O, Siva A, Sormani M, Pelletier D, Okuda D, Azevedo C, Amato M, Bensa C, Berger E, Brochet B, Ciron J, Cohen M, Inglese M, Keegan B, Labauge P, Laplaud D, Le Page E, Louapre C, Makhani N, Mathey G, Mondot L, Montalban X, Pelletier J, Seze J, deStefano N, Thouvenot E, Tintore M, Tutuncuoglu M, Uygunoglu U, Vermersch P, Weinshenker B, Zeydan B. Radiologically Isolated Syndrome: 10‐Year Risk Estimate of a Clinical Event. Annals Of Neurology 2020, 88: 407-417. PMID: 32500558, DOI: 10.1002/ana.25799.Peer-Reviewed Original ResearchConceptsFirst clinical eventSubsequent clinical eventsGadolinium-enhancing lesionsSpinal cord lesionsClinical eventsRIS subjectsCord lesionsIndependent predictorsMultivariate Cox regression modelMagnetic resonance imaging (MRI) characteristicsBaseline independent predictorsWorldwide cohort studiesPositive cerebrospinal fluidCox regression modelAnn NeurolIsolated SyndromeRIS diagnosisCohort studySymptom onsetMale sexMultiple sclerosisOligoclonal bandsInfratentorial lesionsMean ageClinical management
2018
Acquisition of Early Developmental Milestones and Need for Special Education Services in Pediatric Multiple Sclerosis
Aaen G, Waltz M, Vargas W, Makhani N, Ness J, Harris Y, Casper TC, Benson L, Candee M, Chitnis T, Gorman M, Graves J, Greenberg B, Lotze T, Mar S, Tillema JM, Rensel M, Rodriguez M, Rose J, Rubin J, Schreiner T, Waldman A, Weinstock-Guttman B, Belman A, Waubant E, Krupp L. Acquisition of Early Developmental Milestones and Need for Special Education Services in Pediatric Multiple Sclerosis. Journal Of Child Neurology 2018, 34: 148-152. PMID: 30556452, PMCID: PMC6579723, DOI: 10.1177/0883073818815041.Peer-Reviewed Original ResearchConceptsPediatric multiple sclerosisMultiple sclerosisEarly developmental milestonesPediatric Multiple Sclerosis CentersPediatric-onset multiple sclerosisMultiple sclerosis onsetMultiple Sclerosis CenterDevelopmental milestonesPediatric controlsDisease onsetHealthy controlsSclerosisAge 18Age 11ChildrenOnsetIndividualized education planFurther researchControlSafety, tolerability, and efficacy of fluoxetine as an antiviral for acute flaccid myelitis
Messacar K, Sillau S, Hopkins SE, Otten C, Wilson-Murphy M, Wong B, Santoro JD, Treister A, Bains HK, Torres A, Zabrocki L, Glanternik JR, Hurst AL, Martin JA, Schreiner T, Makhani N, DeBiasi RL, Kruer MC, Tremoulet AH, Van Haren K, Desai J, Benson LA, Gorman MP, Abzug MJ, Tyler KL, Dominguez SR. Safety, tolerability, and efficacy of fluoxetine as an antiviral for acute flaccid myelitis. Neurology 2018, 92: e2118-e2126. PMID: 30413631, PMCID: PMC6512883, DOI: 10.1212/wnl.0000000000006670.Peer-Reviewed Original ResearchConceptsAcute flaccid myelitisSerious adverse eventsFluoxetine-treated patientsEfficacy of fluoxetineEV-D68Initial examinationPoor long-term outcomesImproved neurologic outcomeMulticenter cohort studyClass IV evidenceAdverse effect ratesDose of fluoxetinePropensity-adjusted analysisLong-term outcomesUnexposed patientsNeurologic outcomeUntreated patientsAdverse eventsCohort studyPrimary outcomeUS patientsStudy criteriaEnterovirus D68PatientsEffect rate
2017
MRI findings of optic pathway involvement in Miller Fisher syndrome in 3 pediatric patients and a review of the literature
Malhotra A, Zhang M, Wu X, Jindal S, Durand D, Makhani N. MRI findings of optic pathway involvement in Miller Fisher syndrome in 3 pediatric patients and a review of the literature. Journal Of Clinical Neuroscience 2017, 39: 63-67. PMID: 28209311, DOI: 10.1016/j.jocn.2016.12.049.Peer-Reviewed Original ResearchConceptsMiller Fisher syndromeOptic pathway involvementGuillain-Barré syndromeCranial nerve enhancementPediatric patientsFisher syndromeNerve enhancementPathway involvementCranial nerve involvementNerve involvementAcute illnessDemyelinating conditionMRI findingsBrighton criteriaClinical manifestationsOptic pathwayCase reportCranial nervesBrain MRIPatientsSyndromeInvolvementFindingsNerveIllness
2016
Oral Dimethyl Fumarate in Children With Multiple Sclerosis: A Dual-Center Study
Makhani N, Schreiner T. Oral Dimethyl Fumarate in Children With Multiple Sclerosis: A Dual-Center Study. Pediatric Neurology 2016, 57: 101-104. PMID: 26996405, DOI: 10.1016/j.pediatrneurol.2016.01.010.Peer-Reviewed Original ResearchConceptsOral dimethyl fumarateMultiple sclerosisDimethyl fumarateSide effectsFirst-line injectable therapiesBrain magnetic resonance imagingAbnormal liver transaminasesDual-Center ExperienceUsual adult doseMonths of therapyNew T2 lesionsFirst-line therapyCommon side effectsMagnetic resonance imaging (MRI) parametersPediatric multiple sclerosisDual-center studyChildren 18 yearsFormal clinical trialsMagnetic resonance imagingLiver transaminasesDisability scoresLaboratory abnormalitiesOral medicationsRelapse rateRetrospective review
2015
Viral exposures and MS outcome in a prospective cohort of children with acquired demyelination
Makhani N, Banwell B, Tellier R, Yea C, McGovern S, O’Mahony J, Ahorro JM, Arnold D, Sadovnick AD, Marrie RA, Bar-Or A, Network O. Viral exposures and MS outcome in a prospective cohort of children with acquired demyelination. Multiple Sclerosis Journal 2015, 22: 385-388. PMID: 26199356, DOI: 10.1177/1352458515595876.Peer-Reviewed Original ResearchMeSH KeywordsAntibodies, ViralChickenpoxChildCohort StudiesCytomegalovirus InfectionsDemyelinating DiseasesEnzyme-Linked Immunosorbent AssayEpstein-Barr Virus InfectionsFemaleHerpes SimplexHumansImmunoglobulin GMaleMultiple SclerosisProportional Hazards ModelsProspective StudiesSeroepidemiologic StudiesConceptsCMV infectionEpstein-Barr virus infectionRemote EBV infectionSubsequent MS diagnosisImportant prognostic informationMultiple sclerosis riskVaricella-zoster virusHerpes simplex virusCMV seroprevalenceDemyelinating syndromesMonophasic ADSEBV infectionCytomegalovirus infectionProspective cohortMS diagnosisViral exposurePrognostic informationMS outcomesVirus infectionHigh riskSimplex virusMS developmentInfectionProtective factorsChildren
2013
Incidence and prevalence of multiple sclerosis in Europe: a systematic review
Kingwell E, Marriott JJ, Jetté N, Pringsheim T, Makhani N, Morrow SA, Fisk JD, Evans C, Béland SG, Kulaga S, Dykeman J, Wolfson C, Koch MW, Marrie RA. Incidence and prevalence of multiple sclerosis in Europe: a systematic review. BMC Neurology 2013, 13: 128. PMID: 24070256, PMCID: PMC3856596, DOI: 10.1186/1471-2377-13-128.Peer-Reviewed Original ResearchConceptsCurrent diagnostic criteriaIncidence estimatesDiagnostic criteriaOriginal population-based studiesEpidemiology of MSPrevalence of MSPopulation-based studyPeer-reviewed full-text articlesComprehensive literature searchFull-text articlesBackgroundMultiple sclerosisMS incidenceMS prevalenceNeurological disabilityMultiple sclerosisCase definitionCommon causeInclusion criteriaMethodological qualityEpidemiological dataRecent studiesSystematic reviewPrevalenceLiterature searchIncidenceDiagnosing Neuromyelitis Optica
Makhani N, Bigi S, Banwell B, Shroff M. Diagnosing Neuromyelitis Optica. Neuroimaging Clinics Of North America 2013, 23: 279-291. PMID: 23608690, DOI: 10.1016/j.nic.2012.12.007.Peer-Reviewed Original ResearchConceptsNeuromyelitis opticaRecurrent optic neuritisInflammatory demyelinating disorderNMO spectrum disordersChildhood-onset diseaseBroad clinical spectrumAquaporin-4 expressionImportant therapeutic implicationsOptic neuritisTransverse myelitisDemyelinating disorderPrompt diagnosisMagnetic resonance imaging techniquesRecurrent attacksClinical spectrumBrain lesionsHigh riskTherapeutic implicationsAquaporin-4Severe disabilityDiagnostic accuracyOpticaDisordersSpectrum disorderImaging techniques
2009
Cyclophosphamide therapy in pediatric multiple sclerosisSYMBOLSYMBOL
Makhani N, Gorman MP, Branson HM, Stazzone L, Banwell BL, Chitnis T. Cyclophosphamide therapy in pediatric multiple sclerosisSYMBOLSYMBOL. Neurology 2009, 72: 2076-2082. PMID: 19439723, PMCID: PMC2923592, DOI: 10.1212/wnl.0b013e3181a8164c.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAge FactorsAge of OnsetChildCyclophosphamideDisease ProgressionDrug Administration ScheduleDrug ResistanceFemaleGlatiramer AcetateHumansImmunosuppression TherapyImmunosuppressive AgentsInterferon-betaMaleMitoxantroneMultiple SclerosisPeptidesRetrospective StudiesSecondary PreventionSex DistributionTreatment OutcomeConceptsMultiple sclerosisTreatment of childrenInduction therapyMaintenance therapyTreatment initiationDisability Status Scale scoreAggressive multiple sclerosisFirst-line therapyRetrospective chart reviewMajority of patientsStatus Scale scoreCyclophosphamide therapyChart reviewDisability scoresMost patientsMulticenter experienceMultiple relapsesRelapse ratePatient selectionTransient alopeciaBladder carcinomaTreatment administrationCyclophosphamideSide effectsScale score
2001
Elevated mutant frequencies and increased C : G→T : A transitions in Mlh1−/− versus Pms2−/− murine small intestinal epithelial cells
Baross-Francis A, Makhani N, Liskay R, Jirik F. Elevated mutant frequencies and increased C : G→T : A transitions in Mlh1−/− versus Pms2−/− murine small intestinal epithelial cells. Oncogene 2001, 20: 619-625. PMID: 11313994, DOI: 10.1038/sj.onc.1204138.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenosine TriphosphatasesAnimalsBase Pair MismatchCarrier ProteinsCrosses, GeneticDNA Mutational AnalysisDNA Repair EnzymesDNA-Binding ProteinsEpithelial CellsFemaleIntestinal NeoplasmsIntestine, SmallMaleMiceMice, Inbred BALB CMice, Inbred C57BLMice, TransgenicMismatch Repair Endonuclease PMS2MutL Protein Homolog 1Neoplasm ProteinsNuclear ProteinsPoint MutationConceptsMurine small intestinal epithelial cellsGenomic instabilitySmall intestinal epithelial cellsIntestinal epithelial cellsEpithelial cellsMutant frequencyGene targetingReporter systemT mispairsΛ phageDNA mismatch repair genesRepair genesMismatch repair genesPhenotypic dichotomyMutational spectrumMutation spectrumWild-type littermatesMutationsIntestinal adenomasElevated mutant frequenciesImportant roleCellsSmall intestinal adenomasGenesHeterodimers