2014
Paroxysmal itch caused by gain-of-function Nav1.7 mutation
Devigili G, Eleopra R, Pierro T, Lombardi R, Rinaldo S, Lettieri C, Faber C, Merkies I, Waxman S, Lauria G. Paroxysmal itch caused by gain-of-function Nav1.7 mutation. Pain 2014, 155: 1702-1707. PMID: 24820863, DOI: 10.1016/j.pain.2014.05.006.Peer-Reviewed Original ResearchConceptsIntraepidermal nerve fiber densityNerve fiber densityFiber densityAutonomic cardiovascular reflexesFunction Nav1.7 mutationsNerve conduction studiesManifestations of allergyQuantitative sensory testingParadoxical heat sensationProfile assessmentConsequence of diseaseNav1.7 sodium channelCardiovascular reflexesPregabalin treatmentAutonomic testsConduction studiesNav1.7 mutationPain thresholdClinical pictureSystemic diseaseSomatosensory pathwaysSkin biopsiesIndex patientsSensory testingSpicy foods
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
1976
Progressive multifocal neurologic deficit with disseminated subpial demyelination.
Galaburda A, Waxman S, Kemper T, Jones H. Progressive multifocal neurologic deficit with disseminated subpial demyelination. Journal Of Neuropathology & Experimental Neurology 1976, 35: 481-94. PMID: 182927, DOI: 10.1097/00005072-197609000-00001.Peer-Reviewed Original ResearchConceptsMyelin lossAcute urinary retentionModerate mononuclear pleocytosisMultifocal neurologic deficitsDistinct clinical entityYear old manUnusual clinical pictureNormal electrophoretic patternMononuclear pleocytosisUrinary retentionAxonal preservationNeurologic deficitsGait difficultyAstrocytic gliosisClinical entityClinical picturePerivascular cuffingSubpial demyelinationMononuclear cellsMyelinated fibersHistological examinationCerebrospinal fluidGross examinationCoronal sectionsDemyelination