2022
Longitudinally extensive dorsal column spinal cord lesion with sensory ganglionopathy
Cardenas Castillo YM, Zubair AS, DiCapua D, Aguila-Tejedor I, Usman U. Longitudinally extensive dorsal column spinal cord lesion with sensory ganglionopathy. Neurological Sciences 2022, 43: 5157-5159. PMID: 35482156, DOI: 10.1007/s10072-022-06003-0.Peer-Reviewed Case Reports and Technical NotesConceptsMagnetic resonance imagingSensory ganglionopathyTotal spine magnetic resonance imagingRepeat magnetic resonance imagingSpine magnetic resonance imagingHigh-dose steroidsProgressive gait unsteadinessSpinal cord lesionsInfectious workupGait unsteadinessPosterior cordCord lesionsElectrodiagnostic testingMotor strengthNeurologic examinationWallerian degenerationCeliac diseaseSensory ataxiaCord signalHyperintense signalSensory axonsPartial improvementResonance imagingVitamin B12Ganglionopathy
2015
Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing
Shashi V, Petrovski S, Schoch K, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing. Molecular Case Studies 2015, 1: a000265. PMID: 27148562, PMCID: PMC4850881, DOI: 10.1101/mcs.a000265.Peer-Reviewed Original ResearchWhole-exome sequencingTherapeutic responseImmediate clinical responseSustained therapeutic responseProgressive neurological conditionMotor weaknessClinical responseMedical managementFatal conditionCase reportSensory ataxiaBrown-VialettoProgressive conditionNeurological conditionsDisease processSyndrome 2Patient careAccurate diagnosisRiboflavin therapyVision impairmentTherapyPromising outcomesDiagnosisChildrenReport
2008
Autosomal dominant sensory ataxia: a neuroaxonal dystrophy
Moeller JJ, Macaulay RJ, Valdmanis PN, Weston LE, Rouleau GA, Dupré N. Autosomal dominant sensory ataxia: a neuroaxonal dystrophy. Acta Neuropathologica 2008, 116: 331-336. PMID: 18347805, DOI: 10.1007/s00401-008-0362-6.Peer-Reviewed Original ResearchConceptsDorsal column nucleiDorsal columnsSpinal cordAxonal spheroidsNeuroaxonal dystrophyPatchy chronic inflammationSkeletal muscleCongestive heart failureThoracolumbar spinal cordCentral sensory pathwaysPeripheral nerve rootsMajor pathological processesAutosomal dominant sensory ataxiaMicroglial activationClinical patternHeart failureNeuronal lossVentral hornCerebral cortexChronic inflammationNerve rootsPathological featuresWallerian degenerationPeripheral nervesSensory ataxia
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