2023
Genetic, electrophysiological, and pathological studies on patients with SCN9A‐related pain disorders
Yuan J, Cheng X, Matsuura E, Higuchi Y, Ando M, Hashiguchi A, Yoshimura A, Nakachi R, Mine J, Taketani T, Maeda K, Kawakami S, Kira R, Tanaka S, Kanai K, Dib‐Hajj F, Dib‐Hajj S, Waxman S, Takashima H. Genetic, electrophysiological, and pathological studies on patients with SCN9A‐related pain disorders. Journal Of The Peripheral Nervous System 2023, 28: 597-607. PMID: 37555797, DOI: 10.1111/jns.12590.Peer-Reviewed Original ResearchConceptsParoxysmal extreme pain disorderPainful peripheral neuropathyPain disordersSCN9A mutationsPeripheral neuropathyNovel SCN9A mutationsVoltage-gated sodium channel Nav1.7Sodium channel Nav1.7Steady-state fast inactivationGene panel sequencingPatch-clamp analysisAutonomic neuropathyNeuropathic painSCN9A geneClinical featuresUnderlying pathogenesisPathological studiesPatientsChannel Nav1.7EM phenotypePhenotypic spectrumNeuropathyNav1.7 channelsPatch-clamp systemElectrophysiological analysisGenetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies
Almomani R, Sopacua M, Marchi M, Ślęczkowska M, Lindsey P, de Greef B, Hoeijmakers J, Salvi E, Merkies I, Ferdousi M, Malik R, Ziegler D, Derks K, Boenhof G, Martinelli-Boneschi F, Cazzato D, Lombardi R, Dib-Hajj S, Waxman S, Smeets H, Gerrits M, Faber C, Lauria G, Group O. Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies. International Journal Of Molecular Sciences 2023, 24: 8278. PMID: 37175987, PMCID: PMC10179245, DOI: 10.3390/ijms24098278.Peer-Reviewed Original ResearchConceptsDiabetic peripheral neuropathySmall fiber neuropathyPainless neuropathySFN patientsPainful neuropathyPeripheral neuropathyNeuropathy patientsPainless diabetic peripheral neuropathyPathogenic variantsPersonalized pain treatmentPainful peripheral neuropathyDifferent pathogenic variantsGenetic profilingSodium channel genePotential pathogenic variantsDPN patientsNeuropathic painNociceptive pathwaysPain treatmentNeuropathyPatientsSodium channelsFrequent featureDifferent centersSCN7ATRPA1 rare variants in chronic neuropathic and nociplastic pain patients
Marchi M, Salvi E, Andelic M, Mehmeti E, D'Amato I, Cazzato D, Chiappori F, Lombardi R, Cartelli D, Devigili G, Bella E, Gerrits M, Almomani R, Malik R, Ślęczkowska M, Mazzeo A, Gentile L, Dib-Hajj S, Waxman S, Faber C, Vecchio E, de Tommaso M, Lauria G. TRPA1 rare variants in chronic neuropathic and nociplastic pain patients. Pain 2023, 164: 2048-2059. PMID: 37079850, PMCID: PMC10443199, DOI: 10.1097/j.pain.0000000000002905.Peer-Reviewed Original ResearchConceptsNociplastic painPainful neuropathyPain patientsHealthy controlsRare variantsChronic neuropathic painChronic pain disordersChronic widespread painChronic pain patientsMolecular profilePainless neuropathyNeuropathic painPain disordersWidespread painChronic painPatient's molecular profileIndependent cohortPainPatientsClinical diagnosisDisease riskNeuropathyTRPA1 variantsNew risk genesPain genes
2022
Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy
Ślęczkowska M, Almomani R, Marchi M, Salvi E, de Greef B, Sopacua M, Hoeijmakers J, Lindsey P, Waxman S, Lauria G, Faber C, Smeets H, Gerrits M. Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy. International Journal Of Molecular Sciences 2022, 23: 14095. PMID: 36430572, PMCID: PMC9696564, DOI: 10.3390/ijms232214095.Peer-Reviewed Original ResearchConceptsSmall fiber neuropathyNeuropathic painIon channel genesPainful small fiber neuropathyPain score VASPathogenic heterozygous variantGenetic variantsIon channelsCohort studyDiabetic neuropathySevere painDifferent etiologiesPainPatientsVoltage-gated sodium ion channelsHeterozygous variantsNeuropathySodium ion channelsGene screeningGeneration sequencingPrevious findingsSuch variantsEtiologySCN1BVariants
2018
A novel gain-of-function Nav1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy
Adi T, Estacion M, Schulman BR, Vernino S, Dib-Hajj S, Waxman S. A novel gain-of-function Nav1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy. Molecular Pain 2018, 14: 1744806918815007. PMID: 30392441, PMCID: PMC6856981, DOI: 10.1177/1744806918815007.Peer-Reviewed Original ResearchConceptsPainful peripheral neuropathyDorsal root gangliaPeripheral neuropathyUse-dependent inhibitionDRG neuronsPain disordersM variantFunction Nav1.7 mutationsMulti-electrode array recordingsSympathetic ganglion neuronsCommon pain disordersVoltage-clamp recordingsVoltage-gated sodium channel NaRare MendelianNav1.7 mutationGanglion neuronsSodium channel NaTrigeminal ganglionRoot gangliaNeonatal ratsPatientsNeuropathyMutant channelsFunction variantsNeurons
2015
Correction: Contactin-1 and Neurofascin-155/-186 Are Not Targets of Auto-Antibodies in Multifocal Motor Neuropathy
Doppler K, Appeltshauser L, Krämer HH, Ng JK, Meinl E, Villmann C, Brophy P, Dib-Hajj SD, Waxman SG, Weishaupt A, Sommer C. Correction: Contactin-1 and Neurofascin-155/-186 Are Not Targets of Auto-Antibodies in Multifocal Motor Neuropathy. PLOS ONE 2015, 10: e0137443. PMID: 26317434, PMCID: PMC4552886, DOI: 10.1371/journal.pone.0137443.Peer-Reviewed Original ResearchContactin-1 and Neurofascin-155/-186 Are Not Targets of Auto-Antibodies in Multifocal Motor Neuropathy
Doppler K, Appeltshauser L, Krämer HH, Ng JK, Meinl E, Villmann C, Brophy P, Dib-Hajj SD, Waxman SG, Weishaupt A, Sommer C. Contactin-1 and Neurofascin-155/-186 Are Not Targets of Auto-Antibodies in Multifocal Motor Neuropathy. PLOS ONE 2015, 10: e0134274. PMID: 26218529, PMCID: PMC4517860, DOI: 10.1371/journal.pone.0134274.Peer-Reviewed Original ResearchConceptsMultifocal motor neuropathyMotor neuropathyContactin-1Neurofascin 155Multifocal motor neuropathy patientsChronic inflammatory demyelinating polyneuropathyInflammatory demyelinating polyneuropathySubgroup of patientsNeurofascin-186Enzyme-linked immunosorbentHuman embryonic kidney 293 cellsDemyelinating polyneuropathyAuto antibodiesEmbryonic kidney 293 cellsMuscle weaknessNeuropathy patientsPatient seraConduction blockParanodal proteinsNeuropathyPatientsKidney 293 cellsIgMSerumDifferent assays
2014
Epidermal Nerve Fibers
Lauria G, Merkies I, Waxman S, Faber C. Epidermal Nerve Fibers. 2014, 76-79. DOI: 10.1016/b978-0-12-385157-4.00656-4.Peer-Reviewed Original ResearchEpidermal nerve fibersNerve fibersNeuropathic painSkin biopsiesProtein gene product 9.5Severity of neuropathySmall fiber neuropathySmall nerve fibersDistinct clinical syndromeSensory nervesClinical syndromeProduct 9.5Unmyelinated axonsNeuropathyPainAvailability of antibodiesBiopsySomatic functionsInnervationNociceptorsNerveSyndromeAxonsDegenerationDiagnosis
2013
Approach to Small Fiber Neuropathy
Lauria G, Merkies I, Waxman S, Faber C. Approach to Small Fiber Neuropathy. 2013, 507-517. DOI: 10.1007/978-1-4614-6567-6_25.Peer-Reviewed Original Research
2012
Gain-of-function Nav1.8 mutations in painful neuropathy
Faber CG, Lauria G, Merkies IS, Cheng X, Han C, Ahn HS, Persson AK, Hoeijmakers JG, Gerrits MM, Pierro T, Lombardi R, Kapetis D, Dib-Hajj SD, Waxman SG. Gain-of-function Nav1.8 mutations in painful neuropathy. Proceedings Of The National Academy Of Sciences Of The United States Of America 2012, 109: 19444-19449. PMID: 23115331, PMCID: PMC3511073, DOI: 10.1073/pnas.1216080109.Peer-Reviewed Original ResearchConceptsPainful peripheral neuropathySmall fiber neuropathyPainful neuropathyPeripheral neuropathyPainful small fiber neuropathyDorsal root ganglion neuronsSodium channelsApparent underlying causePeripheral nerve axonsDRG neuronsGanglion neuronsNeuropathyNerve axonsUnderlying causeFunction variantsCurrent clampPatientsPotential pathogenicityNeuronsMutationsHyperexcitabilityAxonsResponseGenetic aspects of sodium channelopathy in small fiber neuropathy
Hoeijmakers J, Merkies I, Gerrits M, Waxman S, Faber C. Genetic aspects of sodium channelopathy in small fiber neuropathy. Clinical Genetics 2012, 82: 351-358. PMID: 22803682, DOI: 10.1111/j.1399-0004.2012.01937.x.Peer-Reviewed Original ResearchConceptsSmall fiber neuropathyEtiology of SFNSmall-diameter peripheral axonsIntraepidermal nerve fiber densityDorsal root ganglion neuronsAbnormal thermal thresholdsNerve fiber densityQuantitative sensory testingUnmyelinated C-fibersSFN patientsAutonomic dysfunctionNeuropathic painAδ fibersGanglion neuronsC-fibersPeripheral axonsSensory testingSpecific treatmentSodium channelopathiesApparent causeFiber densitySodium channelsLogical targetNeuropathyPain
1995
Clivus and cervical spinal osteomyelitis with epidural abscess presenting with multiple cranial neuropathies
Azizi S, Fayad P, Fulbright R, Giroux M, Waxman S. Clivus and cervical spinal osteomyelitis with epidural abscess presenting with multiple cranial neuropathies. Clinical Neurology And Neurosurgery 1995, 97: 239-244. PMID: 7586856, DOI: 10.1016/0303-8467(95)00036-j.Peer-Reviewed Original ResearchConceptsCranial nerve abnormalitiesNerve abnormalitiesTwelfth nerve palsyMultiple cranial neuropathiesElevated CSF proteinHistory of otitisCranial neuropathiesDiabetic menNerve palsyEpidural abscessShoulder painSpinal osteomyelitisLumbar punctureCervical spinePrevertebral spaceEpidural spaceCSF proteinImaging proceduresClivusOsteomyelitisPatientsAbnormalitiesNeckPleocytosisNeuropathy
1981
Diabetic Truncal Polyneuropathy
Waxman S, Sabin T. Diabetic Truncal Polyneuropathy. JAMA Neurology 1981, 38: 46-47. PMID: 7458723, DOI: 10.1001/archneur.1981.00510010072013.Peer-Reviewed Original Research
1980
Pathophysiology of nerve conduction: relation to diabetic neuropathy.
WAXMAN S. Pathophysiology of nerve conduction: relation to diabetic neuropathy. Annals Of Internal Medicine 1980, 92: 297-301. PMID: 6243892, DOI: 10.7326/0003-4819-92-2-297.Peer-Reviewed Original ResearchConceptsTotal conduction blockProximal-distal gradientClinicopathologic aspectsDiabetic neuropathyClinical deficitsElectrophysiologic variablesNerve diseasePathophysiologic mechanismsNerve conductionConduction blockPathologic basisConduction velocityImpulse conductionTopographic patternsTemporal dispersionNeuropathyNerveDysfunctionPathophysiologyLesionsDisease
1976
Probability of conduction deficit as related to fiber length in random-distribution models of peripheral neuropathies
Waxman S, Brill M, Geschwind N, Sabin T, Lettvin J. Probability of conduction deficit as related to fiber length in random-distribution models of peripheral neuropathies. Journal Of The Neurological Sciences 1976, 29: 39-53. PMID: 181541, DOI: 10.1016/0022-510x(76)90079-4.Peer-Reviewed Original ResearchConceptsPeripheral neuropathyAxonal dysfunctionSensory deficitsDistal sensory deficitsNormal sensory conductionRapid clinical progressionConduction deficitsSensory conductionClinical progressionNerve fibersConduction blockNeuropathyDysfunctionMarked reductionProximodistal gradientPossible correlatesDeficitsSmall increaseParesthesiaeAbnormalitiesProgression