2024
Small fiber neuropathy
Kool D, Hoeijmakers J, Waxman S, Faber C. Small fiber neuropathy. International Review Of Neurobiology 2024 DOI: 10.1016/bs.irn.2024.10.001.Peer-Reviewed Original ResearchSmall fiber neuropathySodium channelopathiesAssociated with small fiber neuropathyTherapeutic strategiesNerve fibersNeuropathic pain disordersQuantitative sensory testingUnmyelinated C-fibersNervous systemSmall nerve fibersDiagnostic methodsPeripheral nervous systemAutonomic nervous systemNeuropathic painFiber neuropathyPain disordersClinical presentationC-fibersImmune-mediatedAutonomic dysfunctionClinical featuresSkin biopsiesDiagnosed patientsClinical trialsHereditary condition
2023
Genetic 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 centersSCN7ANav1.7 gain-of-function mutation I228M triggers age-dependent nociceptive insensitivity and C-LTMR dysregulation
Wimalasena N, Taub D, Shim J, Hakim S, Kawaguchi R, Chen L, El-Rifai M, Geschwind D, Dib-Hajj S, Waxman S, Woolf C. Nav1.7 gain-of-function mutation I228M triggers age-dependent nociceptive insensitivity and C-LTMR dysregulation. Experimental Neurology 2023, 364: 114393. PMID: 37003485, PMCID: PMC10171359, DOI: 10.1016/j.expneurol.2023.114393.Peer-Reviewed Original ResearchConceptsParoxysmal extreme pain disorderSmall fiber neuropathyFunction mutationsDRG neuron hyperexcitabilityYoung adult miceVoltage-gated sodium channel NaSodium conductanceAge-related changesNeuron hyperexcitabilityPain disordersCongenital insensitivitySodium channel NaExcitability changesFemale miceMouse DRGYoung miceNeuronal excitabilityNoxious heatSkin lesionsVoltage-gated channelsAdult miceNeuron subtypesNervous systemProfound insensitivityMice
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
2017
COL6A5 variants in familial neuropathic chronic itch
Martinelli-Boneschi F, Colombi M, Castori M, Devigili G, Eleopra R, Malik RA, Ritelli M, Zoppi N, Dordoni C, Sorosina M, Grammatico P, Fadavi H, Gerrits MM, Almomani R, Faber CG, Merkies IS, Toniolo D, Network F, Cocca M, Doglioni C, Waxman S, Dib-Hajj S, Taiana M, Sassone J, Lombardi R, Cazzato D, Zauli A, Santoro S, Marchi M, Lauria G. COL6A5 variants in familial neuropathic chronic itch. Brain 2017, 140: 555-567. PMID: 28073787, DOI: 10.1093/brain/aww343.Peer-Reviewed Original ResearchConceptsChronic itchSmall fiber neuropathyJHS/EDS-HT patientsJoint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility typeNew candidate therapeutic targetsIntraepidermal nerve fiber densityEhlers-Danlos syndrome hypermobility typeEDS-HT patientsNonsense variantNerve fiber densitySkin of patientsCandidate therapeutic targetUnrelated sporadic patientsWhole-exome sequencingItch reliefNeuropathic itchDiabetic patientsHypermobility typeSomatosensory pathwaysHealthy controlsSkin biopsiesSide effectsTherapeutic targetPatientsSporadic patients
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
The NaV1.7 sodium channel: from molecule to man
Dib-Hajj SD, Yang Y, Black JA, Waxman SG. The NaV1.7 sodium channel: from molecule to man. Nature Reviews Neuroscience 2012, 14: 49-62. PMID: 23232607, DOI: 10.1038/nrn3404.Peer-Reviewed Original ResearchConceptsDorsal hornPain disordersNerve endingsNociceptive dorsal root ganglion (DRG) neuronsPainful small fiber neuropathyDorsal root ganglion neuronsVoltage-gated sodium channel Nav1.7Small fiber neuropathyTreatment of painFree nerve endingsSecond-order neuronsSmall molecule blockersSodium channel Nav1.7Function mutationsOlfactory sensory neuronsProbability of neuronsNav1.7 sodium channelSuperficial laminaeGanglion neuronsRisk factorsSympathetic neuronsSlow depolarizationSpinal cordCardiac deficitsSensory neuronsGain-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