2020
Effects of mexiletine on hyperexcitability in sporadic amyotrophic lateral sclerosis: Preliminary findings from a small phase II randomized controlled trial
Weiss M, Macklin E, McIlduff C, Vucic S, Wainger B, Kiernan M, Goutman S, Goyal N, Rutkove S, Ladha S, Chen I, Harms M, Brannagan T, Lacomis D, Zivkovic S, Ma M, Wang L, Simmons Z, Rivner M, Shefner J, Cudkowicz M, Atassi N, Group F. Effects of mexiletine on hyperexcitability in sporadic amyotrophic lateral sclerosis: Preliminary findings from a small phase II randomized controlled trial. Muscle & Nerve 2020, 63: 371-383. PMID: 33340120, PMCID: PMC8513796, DOI: 10.1002/mus.27146.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAmyotrophic Lateral SclerosisAxonsCortical ExcitabilityDouble-Blind MethodElectrodiagnosisElectromyographyEvoked Potentials, MotorFemaleHumansMaleMedian NerveMexiletineMiddle AgedNeural ConductionPreliminary DataTranscranial Magnetic StimulationVoltage-Gated Sodium Channel BlockersConceptsEffects of mexiletineResting motor thresholdSporadic amyotrophic lateral sclerosisRandomized controlled trialsAxonal hyperexcitabilityAmyotrophic lateral sclerosisRandomized to placeboAxonal excitability studiesCompared to placeboPhase II randomized controlled trialSecondary outcome measuresTranscranial magnetic stimulationPrimary endpointLateral sclerosisAxonal excitabilityHalf-timeTreated subjectsMexiletineReduction of motorControlled trialsHyperexcitabilityALS subjectsAlternative causesMagnetic stimulationOutcome measuresTTR gene silencing therapy in post liver transplant hereditary ATTR amyloidosis patients
Moshe-Lilie O, Dimitrova D, Heitner S, Brannagan T, Zivkovic S, Hanna M, Masri A, Polydefkis M, Berk J, Gertz M, Karam C. TTR gene silencing therapy in post liver transplant hereditary ATTR amyloidosis patients. Amyloid 2020, 27: 250-253. PMID: 32578459, DOI: 10.1080/13506129.2020.1784134.Peer-Reviewed Original ResearchConceptsHereditary transthyretin (TTR) amyloidosisGene silencing therapySilencing therapyMedian duration of therapyPatients stopped treatmentDuration of therapyATTR amyloidosis patientsBone marrow functionNeuropathy Impairment ScoreATTR amyloid depositsOrthotopic liver transplantationTTR gene silencingMedian durationMarrow functionMedian ageAmyloidosis patientsDiscontinued treatmentFrequent complicationMedian timeLiver rejectionLiver transplantationTreatment optionsDisease progressionGene silencing agentsPatients
2017
Clinical and neuropathological features of ALS/FTD with TIA1 mutations
Hirsch-Reinshagen V, Pottier C, Nicholson A, Baker M, Hsiung G, Krieger C, Sengdy P, Boylan K, Dickson D, Mesulam M, Weintraub S, Bigio E, Zinman L, Keith J, Rogaeva E, Zivkovic S, Lacomis D, Taylor J, Rademakers R, Mackenzie I. Clinical and neuropathological features of ALS/FTD with TIA1 mutations. Acta Neuropathologica Communications 2017, 5: 96. PMID: 29216908, PMCID: PMC5719900, DOI: 10.1186/s40478-017-0493-x.Peer-Reviewed Original ResearchConceptsT-cell-restricted intracellular antigen 1Frontotemporal dementiaTDP-43TDP-43 pathologyAmyotrophic lateral sclerosisLanguage impairmentMotor neuronsPattern of neurodegenerationPsychiatric featuresSporadic ALSFrontotemporal lobar degenerationPyramidal motor systemTDP-43 proteinopathyDiagnosis of amyotrophic lateral sclerosisSporadic amyotrophic lateral sclerosisCaudate atrophyFeatures of amyotrophic lateral sclerosisRepeat expansionRestriction patternsInitial presentationMotor systemMutation carriersFocal weaknessDisease durationClinical phenotypeElectrodiagnostic studies in the intensive care unit: A comparison study 2 decades later
Ojha A, Zivkovic S, Lacomis D. Electrodiagnostic studies in the intensive care unit: A comparison study 2 decades later. Muscle & Nerve 2017, 57: 772-776. PMID: 29053882, DOI: 10.1002/mus.25998.Peer-Reviewed Original ResearchTIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics
Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, Murray ME, Kato M, Fryer JD, Petrucelli L, Zinman L, Weintraub S, Mesulam M, Keith J, Zivkovic SA, Hirsch-Reinshagen V, Roos RP, Züchner S, Graff-Radford NR, Petersen RC, Caselli RJ, Wszolek ZK, Finger E, Lippa C, Lacomis D, Stewart H, Dickson DW, Kim HJ, Rogaeva E, Bigio E, Boylan KB, Taylor JP, Rademakers R. TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Neuron 2017, 95: 808-816.e9. PMID: 28817800, PMCID: PMC5576574, DOI: 10.1016/j.neuron.2017.07.025.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAmyotrophic Lateral SclerosisDNA-Binding ProteinsFamily HealthFemaleFrontotemporal DementiaGreen Fluorescent ProteinsHeLa CellsHeterogeneous Nuclear Ribonucleoprotein A1Heterogeneous-Nuclear Ribonucleoprotein Group A-BHumansMaleMicroscopy, ConfocalMiddle AgedMutationPoly(A)-Binding ProteinsRNA-Binding Protein FUSStress, PhysiologicalT-Cell Intracellular Antigen-1Time FactorsTransfectionConceptsAmyotrophic lateral sclerosisTIA1 mutationsFrontotemporal dementiaLateral sclerosisTDP-43Age-related neurodegenerative disordersALS/FTD pathogenesisALS/frontotemporal dementiaIntracellular antigen-1ALS patientsPathological featuresProtein 43Mutation carriersPostmortem neuropathologyTAR DNANeurodegenerative disordersAntigen 1Positive inclusionsFTD pathogenesisPathological signatureFTD familiesGenetic etiologySclerosisStress granule dynamicsStress granules