Neuropathy‐associated NaV1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons
Persson A, Liu S, Faber CG, Merkies IS, Black JA, Waxman SG. Neuropathy‐associated NaV1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons. Annals Of Neurology 2012, 73: 140-145. PMID: 23280954, DOI: 10.1002/ana.23725.Peer-Reviewed Original ResearchConceptsSmall fiber neuropathyIntraepidermal nerve fibersIdiopathic small fiber neuropathyNa-Ca exchangeDRG neuronsNeurite lengthSensory axonsLoss of IENFsReverse Na-Ca exchangeDorsal root ganglion neuronsPeripheral sensory axonsPeripheral nerve axonsSodium channel blockers carbamazepineSodium channel activityAxonal degenerationGanglion neuronsSpontaneous firingNerve fibersAxonal integrityNeuron axonsImpaired regenerationNerve axonsFunction variantsAxonsSodium channelsFunctional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy
Han C, Hoeijmakers JG, Liu S, Gerrits MM, Morsche R, Lauria G, Dib-Hajj SD, Drenth JP, Faber CG, Merkies IS, Waxman SG. Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy. Brain 2012, 135: 2613-2628. PMID: 22826602, DOI: 10.1093/brain/aws187.Peer-Reviewed Original ResearchConceptsDorsal root ganglion neuronsSevere autonomic dysfunctionSmall fiber neuropathySuperior cervical ganglion neuronsSympathetic ganglion neuronsAutonomic dysfunctionGanglion neuronsDorsal root gangliaAutonomic symptomsRoot gangliaSmall-diameter peripheral axonsSensory dorsal root gangliaSuperior cervical ganglionPeripheral nervous systemChannel slow inactivationDetectable changeNeuropathic painSCN9A geneCervical ganglionSympathetic neuronsPeripheral axonsNeuropathyPatientsDistal extremitiesNervous system