2021
Advances in Treatments in Muscular Dystrophies and Motor Neuron Disorders
Roy B, Griggs R. Advances in Treatments in Muscular Dystrophies and Motor Neuron Disorders. Neurologic Clinics 2021, 39: 87-112. PMID: 33223091, DOI: 10.1016/j.ncl.2020.09.005.Peer-Reviewed Original ResearchConceptsMotor neuron disordersMuscular dystrophyGene therapyTreatment of muscular dystrophiesNeuronal disordersDuchenne muscular dystrophySpinal muscular atrophyClinical trialsTherapyDystrophyTherapeutic promiseMuscular atrophyDisease pathophysiologyAmyotrophic lateral sclerosisNew drugsDrugLateral sclerosisDiseaseTreatmentCost burdenDisordersDrug technologyReview advancesIncreased understandingPathophysiology
2020
Utility of intrathecal baclofen pump in primary lateral sclerosis
Zubair AS, Raymond M, Patwa HS. Utility of intrathecal baclofen pump in primary lateral sclerosis. Journal Of The Neurological Sciences 2020, 420: 117227. PMID: 33239209, DOI: 10.1016/j.jns.2020.117227.Peer-Reviewed Original ResearchMeSH KeywordsBaclofenHumansInjections, SpinalMiddle AgedMotor Neuron DiseaseMuscle Relaxants, CentralMuscle SpasticityConceptsPrimary lateral sclerosisLateral sclerosisProgressive upper motor neuron dysfunctionLower motor neuron involvementUpper motor neuron dysfunctionMigration of catheterMotor neuron involvementIntrathecal baclofen pumpMotor neuron dysfunctionSpinal cord injuryLower extremity stiffnessAshworth scoreNeuron involvementBaclofen pumpIntrathecal baclofenClinical courseInsidious onsetMuscle spasticityPLS patientsNeuron dysfunctionCord injuryNeurologic conditionsClinical examinationEffective treatmentSpasticity
2016
Altered cortical beta‐band oscillations reflect motor system degeneration in amyotrophic lateral sclerosis
Proudfoot M, Rohenkohl G, Quinn A, Colclough G, Wuu J, Talbot K, Woolrich M, Benatar M, Nobre A, Turner M. Altered cortical beta‐band oscillations reflect motor system degeneration in amyotrophic lateral sclerosis. Human Brain Mapping 2016, 38: 237-254. PMID: 27623516, PMCID: PMC5215611, DOI: 10.1002/hbm.23357.Peer-Reviewed Original ResearchConceptsPrimary lateral sclerosisAmyotrophic lateral sclerosisSensitive marker of disease activityPLS groupMotor cortex of ALS patientsBeta-band oscillationsMarkers of disease activityDevelopment of overt symptomsHealthy control groupALS spectrumAmyotrophic lateral sclerosis patientsAsymptomatic mutation carriersDiffusion tensor imaging studiesBeta desynchronizationSymptomatic patientsLateral sclerosisDisease activityMutation carriersGene mutationsCortical hyperexcitabilityAsymptomatic carriersSensitive markerNeuroprotective strategiesImaging studiesCortical dysfunction
2014
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud I, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders. Science 2014, 343: 506-511. PMID: 24482476, PMCID: PMC4157572, DOI: 10.1126/science.1247363.Peer-Reviewed Original ResearchConceptsHereditary spastic paraplegiaFurther candidate genesMotor neuron diseaseNeurodegenerative disordersGene discoveryHSP genesGenetic basisCandidate genesNetwork analysisNeuron diseaseCellular transportWhole-exome sequencingNeurodegenerative motor neuron diseaseProgressive age-dependent lossAge-dependent lossGenesMechanistic understandingMotor tract functionCommon neurodegenerative disorderFraction of casesTract functionGenetic diagnosisSpastic paraplegiaGlobal viewDisease
2012
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
van Rheenen W, van Blitterswijk M, Huisman M, Vlam L, van Doormaal P, Seelen M, Medic J, Dooijes D, de Visser M, van der Kooi A, Raaphorst J, Schelhaas H, van der Pol W, Veldink J, van den Berg L, Weiner M, Aisen P, Petersen R, Clifford R, Jagust W, Trojanowki J, Toga A, Beckett L, Green R, Saykin A, Morris J, Liu E, Montine T, Gamst A, Thomas R, Donohue M, Walter S, Gessert D, Sather T, Beckett L, Harvey D, Gamst A, Donohue M, Kornak J, Dale A, Bernstein M, Felmlee J, Fox N, Thompson P, Schuff N, Alexander G, DeCarli C, Bandy D, Koeppe R, Foster N, Reiman E, Chen K, Mathis C, Cairns N, Taylor-Reinwald L, Shaw L, Lee V, Korecka M, Crawford K, Neu S, Foroud T, Potkin S, Shen L, Kachaturian Z, Frank R, Snyder P, Kaye J, Dolen S, Quinn J, Schneider L, Pawluczyk S, Spann B, Brewer J, Vanderswag H, Heidebrink J, Lord J, Petersen R, Johnson K, S. Doody R, Villanueva-Meyer J, Chowdhury M, Stern Y, Honig L, Bell K, Morris J, Mintun M, Schneider S, Marson D, Griffith R, Clark D, Grossman H, Mitsis E, Romirowsky A, deToledo-Morrell L, Shah R, Duara R, Varon D, Roberts P, Albert M, Onyike C, Kielb S, Rusinek H, de Leon M, Glodzik L, Doraiswamy P, Petrella J, Arnold S, Karlawish J, Wolk D, Smith C, Jicha G, Hardy P, Lopez O, Oakley M, Simpson D, Ismail M, Brand C, Mulnard R, Thai G, Mc-Adams-Ortiz C, Diaz-Arrastia R, Martin-Cook K, DeVous M, Levey A, Lah J, Cellar J, Burns J, Anderson H, Swerdlow R, Bartzokis G, Silverman D, Lu P, Apostolova L, Graff-Radford N, Parfitt F, Johnson H, Farlow M, Herring S, Hake A, van Dyck C, Carson R, MacAvoy M, Chertkow H, Bergman H, Hosein C, Black S, Stefanovic B, Caldwell C, Hsiung G, Feldman H, Assaly M, Kertesz A, Rogers J, Trost D, Bernick C, Munic D, Wu C, Johnson N, Mesulam M, Sadowsky C, Martinez W, Villena T, Turner R, Johnson K, Reynolds B, Sperling R, Frey M, Johnson K, Rosen A, Tinklenberg J, Sabbagh M, Belden C, Jacobson S, Killiany R, Norbash A, Obisesan T, Wolday S, Bwayo S, Lerner A, Hudson L, Ogrocki P, DeCarli C, Fletcher E, Carmichael O, Kittur S, Borrie M, Lee T, Bartha R, Johnson S, Asthana S, Carlsson C, Potkin S, Preda A, Nguyen D, Tariot P, Fleisher A, Reeder S, Bates V, Capote H, Rainka M, Hendin B, Scharre D, Kataki M, Zimmerman E, Celmins D, Brown A, Pearlson G, Blank K, Anderson K, Saykin A, Santulli R, Schwartz E, Williamson J, Sink K, Watkins F, Ott B, Querfurth H, Tremont G, Salloway S, Malloy P, Correia S, Rosen H, Miller B, Mintzer J, Longmire C, Spicer K, Kwon S, Kim J, Cho K, Shin D, Ko Y, Lee S, Cha J, Kim Y, Shin D, Jang H, Choi N, Hong S, Rha J, Hong K, Kim E, Choi J, Sohn S, Shin W, HyukHeo S, Chung K, Park J, Lee J, Park J, Park T, Bae H, Han M, Kwon H, Lee K, Lee T, Jeong D, Lee J, Ashwal S, deVeber G, Ferriero D, Fullerton H, Ichord R, Kirkham F, Lynch J, O'Callaghan F, Pavlakis S, Sebire G, Willan A, Willan A, Sofronas M, Dlamini N, Elbers J, Nowak-Göttl U, Düring C, Krümpel A, Plumb P, Journeycake J, van de Bruinhorst K, Gossett D, Hernandez Chavez M, Monagle P, MacKay M, Barnes C, Furmedge J, Gordon A, Benedict S, Bale J, Nielson D, Abdalla A, Chadehumbe M, Kabbouche M, Karti P, Phillips T, Friedman N, Rizkallah E, Zamel K, Wiznitzer M, Lidsky K, Bernard T, Goldenberg N, Armstrong-Wells J, Booth F, Nash M, Beslow L, Carpenter J, Chang T, Weinstein S, Kan L, Smith R, Maytal J, Sy-Kho R, Yager J, Massicotte P, Ashwal S, McClure C, Bjornson B, Hukin J, Bucevska M, Kent S, Riviello J, Rivkin M, Trenor C, Amlie-Lefond C, Whelan H, Ferriero D, Fullerton H, Fox C, Pavlakis S, Goodman S, Levinson K, Kolk A, Laugesaar R, Talvik T, Imam H, Thomas T, Golomb M, Kirton A, Heyer G, Ganesan V, Saengpattrachai M, Crosswell H, Mancuso A, Tatishvili N, Yeh A, Humpherys P, Abraham L, Alveal L, Ortiz M, Altuna D, Maxit C, Gonzalez V, Alam M, Buckley D, Penney S, Jordan L, Grabowski E, Chan A, Deray M, Khatib Z, Kovacevic G, Kosofsky B, Leifer D, Nass R, Wong V, Catsman C, El-Hakam L, Sebire G, Cholette J, Narang S, Lerner N, Carpenter S, Bischoff K, Frei-Jones M, Masur D, Epstein L, Bagiella E, Hinton V, Gallentine W, Rende E, Provenzale J, Voyvodic J, Song A, Conklin T, O'Hara K, Seinfeld S, Conry J, Glauser T, Ayala J, Facchini R, Sigalova M, Hannigan J, Weiss E, Mancini A, Curran J, Ahlm S, Renaldi J, Umanzour D, Kim A, Hamidullah A, Litherland C, Bonner M, Xu Y, Van de Water V, Grasso S, Kushner D, Culbert J, Bush B, Chandrasekaran S, Davis L, Rogers C, Sabo C, Wang H, Noebels J. Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology 2012, 79: 878-882. PMID: 22843265, DOI: 10.1212/wnl.0b013e3182661d14.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge of OnsetAgedAged, 80 and overAmyotrophic Lateral SclerosisC9orf72 ProteinCohort StudiesConfidence IntervalsDementiaDNADNA Repeat ExpansionFemaleFrontotemporal Lobar DegenerationGenotypeHumansMaleMiddle AgedMotor Neuron DiseaseMuscular Atrophy, SpinalMutationParkinson DiseasePolymerase Chain ReactionProportional Hazards ModelsProteinsSurvivalYoung AdultConceptsProgressive muscular atrophyPrimary lateral sclerosisAmyotrophic lateral sclerosisSporadic amyotrophic lateral sclerosisParkinson's diseaseShorter survivalLateral sclerosisRelatives of patientsFamilial aggregationRepeat expansionHexanucleotide repeat expansionControl subjectsMotor neuronsLarge cohortPatientsMuscular atrophyGenetic testingEarly onsetMajor causeDementiaC9orf72SclerosisFALSEarly ageDutch descent
2007
Motoneuron-specific NR3B gene: No association with ALS and evidence for a common null alleleSYMBOL
Niemann S, Landers J, Churchill M, Hosler B, Sapp P, Speed W, Lahn B, Kidd K, Brown R, Hayashi Y. Motoneuron-specific NR3B gene: No association with ALS and evidence for a common null alleleSYMBOL. Neurology 2007, 70: 666-676. PMID: 17687115, DOI: 10.1212/01.wnl.0000271078.51280.17.Peer-Reviewed Original ResearchMeSH KeywordsAllelesCase-Control StudiesDNA Mutational AnalysisGene FrequencyGenetic Predisposition to DiseaseGenetics, PopulationGenotypeHaplotypesHumansLinkage DisequilibriumMotor Neuron DiseaseMotor NeuronsPolymorphism, Single NucleotideReceptors, N-Methyl-D-AspartateSuperoxide DismutaseSuperoxide Dismutase-1ConceptsSporadic amyotrophic lateral sclerosisAmyotrophic lateral sclerosisSingle nucleotide polymorphismsGRIN3B geneGlutamate-mediated excitotoxicityCase-control studyFamilial amyotrophic lateral sclerosisIonotropic glutamate receptorsNervous system-related genesTag single nucleotide polymorphismsPolymorphic CAG repeatNMDA typeGlutamate receptorsLateral sclerosisReceptor responsesAllele frequenciesCommon polymorphismsUnreported single nucleotide polymorphismsNR3BCAG repeatsGenetic dysfunctionGRIN3BNucleotide polymorphismsNull allelesIndividualsNogo‐A marks motor neuron disease
Harel NY, Strittmatter SM. Nogo‐A marks motor neuron disease. Annals Of Neurology 2007, 62: 1-2. PMID: 17474106, PMCID: PMC2323439, DOI: 10.1002/ana.21145.Peer-Reviewed Original ResearchQuantitative objective markers for upper and lower motor neuron dysfunction in ALS
Mitsumoto H, Ulu A, Pullman S, Gooch C, Chan S, Tang M, Mao X, Hays A, Floyd A, Battista V, Montes J, Hayes S, Dashnaw S, Kaufmann P, Gordon P, Hirsch J, Levin B, Rowland L, Shungu D. Quantitative objective markers for upper and lower motor neuron dysfunction in ALS. Neurology 2007, 68: 1402-1410. PMID: 17452585, DOI: 10.1212/01.wnl.0000260065.57832.87.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overAmyotrophic Lateral SclerosisAspartic AcidBiomarkersCreatineDiffusion Magnetic Resonance ImagingFemaleFollow-Up StudiesHumansMagnetic Resonance SpectroscopyMaleMiddle AgedMotor CortexMotor Neuron DiseaseMotor NeuronsMuscular Atrophy, SpinalNeural ConductionProspective StudiesTranscranial Magnetic StimulationConceptsMotor unit number estimationCentral motor conduction timeMotor conduction timeAcetyl-aspartate concentrationsUMN syndromeControl subjectsTibialis anteriorConduction timeObjective markersLower motor neuron dysfunctionLower motor neuron involvementALS Functional RatingMotor neuron involvementMotor neuron dysfunctionProton MR spectroscopic imagingTranscranial magnetic stimulationRatio of NAADiffusion tensor imagingLMN syndromesDisease activityNeuron involvementNeuron dysfunctionMR spectroscopic imagingFunctional ratingObjective biomarkers
2001
Autoimmunity to βIV spectrin in paraneoplastic lower motor neuron syndrome
Berghs S, Ferracci F, Maksimova E, Gleason S, Leszczynski N, Butler M, De Camilli P, Solimena M. Autoimmunity to βIV spectrin in paraneoplastic lower motor neuron syndrome. Proceedings Of The National Academy Of Sciences Of The United States Of America 2001, 98: 6945-6950. PMID: 11391009, PMCID: PMC34458, DOI: 10.1073/pnas.121170798.Peer-Reviewed Original ResearchConceptsLower motor neuron syndromeMotor neuron syndromeParaneoplastic neurological disordersAxons of motoneuronsSevere neurological diseaseAxon initial segmentNodes of RanvierAutoimmune pathogenesisAutoimmune targetNeurological symptomsBreast cancerPartial improvementNeurological diseasesAffected neuronsNeurological disordersSyndromeAutoantibodiesCancer removalCancer cellsBetaIV spectrinAutoimmunityMajor targetSurface epitopesPathogenesisAxonsDisease status and use of ventilatory support by ALS patients
Cedarbaum J, Stambler N. Disease status and use of ventilatory support by ALS patients. Amyotrophic Lateral Sclerosis And Frontotemporal Degeneration 2001, 2: 19-22. PMID: 11465928, DOI: 10.1080/146608201300079373.Peer-Reviewed Original ResearchConceptsMechanical ventilationPlacebo patientsUse of MVRespiratory adverse eventsUse of BiPAPHealth resource utilizationPhase III trialsBiPAP useR-metHuBDNFProspective databaseSymptom durationVentilatory supportAdverse eventsIII trialsALS patientsMean baselinePrescribing practicesVital capacityBehavior of physiciansBiPAPALSFRS scorePatientsMortality rateDisease statusTrials
1999
The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function
Cedarbaum J, Stambler N, Malta E, Fuller C, Hilt D, Thurmond B, Nakanishi A, . B. The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function. Journal Of The Neurological Sciences 1999, 169: 13-21. PMID: 10540002, DOI: 10.1016/s0022-510x(99)00210-5.Peer-Reviewed Original ResearchConceptsALS Functional Rating ScaleAmyotrophic lateral sclerosisFunctional Rating ScaleRating ScaleALSFRS-R scoreProgression of disabilitySickness Impact ProfileQuality of lifeVentilatory supportImpact ProfileRespiratory functionLateral sclerosisQuality of functionStrong internal consistencyAdditional assessmentInternal consistencyRating instrumentStrong determinantOrthopneaDyspneaSclerosisPatientsDysfunctionRespiratory
1998
DIAPHRAGM PACING
Elefteriades J, Quin J. DIAPHRAGM PACING. Thoracic Surgery Clinics 1998, 8: 331-358. PMID: 9619308, DOI: 10.1016/s1052-3359(25)00337-0.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDiaphragmElectric Stimulation TherapyHumansMotor Neuron DiseaseNeural ConductionPhrenic NerveConceptsPhrenic nerve functionNerve functionUpper motor neuron injuryMotor neuron injuryCareful patient evaluationAdequate psychosocial supportDiaphragm pacingTube complicationsNeuron injuryPatient evaluationPsychosocial supportSuccessful pacingEstablished modePacingElectrode placementDiaphragmComplicationsPatientsInjury
1995
Effects of brain‐derived neurotrophic factor on motor dysfunction in wobbler mouse motor neuron disease
Ikeda K, Klinkosz B, Greene T, Cedarbaum J, Wong V, Lindsay R, Mitsumoto H. Effects of brain‐derived neurotrophic factor on motor dysfunction in wobbler mouse motor neuron disease. Annals Of Neurology 1995, 37: 505-511. PMID: 7717687, DOI: 10.1002/ana.410370413.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBrain-Derived Neurotrophic FactorMiceMice, Neurologic MutantsMicroscopy, ElectronMotor Neuron DiseaseMusclesNerve Tissue ProteinsConceptsBrain-derived neurotrophic factorMouse motor neuron diseaseWobbler mouse motor neuron diseaseMotor neuron diseaseBDNF treatmentMotor dysfunctionNeurotrophic factorNeuron diseaseVentral rootsMotor neuronsWobbler miceExogenous brain-derived neurotrophic factorAxotomy-induced cell deathHuman brain-derived neurotrophic factorBDNF-treated miceBiceps muscle weightCervical ventral rootsDenervation muscle atrophyExogenous BDNF administrationMotor axon lossRecombinant human brain-derived neurotrophic factorVehicle-treated miceVehicle-treated animalsEnd of treatmentMuscle twitch tensionHistometric effects of ciliary neurotrophic factor in wobbler mouse motor neuron disease
Ikeda K, Wong V, Holmlund T, Greene T, Cedarbaum J, Lindsay R, Mitsumoto H. Histometric effects of ciliary neurotrophic factor in wobbler mouse motor neuron disease. Annals Of Neurology 1995, 37: 47-54. PMID: 7818257, DOI: 10.1002/ana.410370110.Peer-Reviewed Original ResearchConceptsCiliary neurotrophic factorMotor neuron diseaseNeurotrophic factorMotor neuronsHuman ciliary neurotrophic factorNeuron diseaseWobbler miceWobbler mouse motor neuron diseaseMouse motor neuron diseaseCalcitonin gene-related peptideAcute axonal degenerationAxonal branching pointsBiceps muscle weightC5 ventral rootsGene-related peptidePercentage of axonsAtrophied muscle fibersUntreated control groupRat ciliary neurotrophic factorMean muscle fiber diameterMusculocutaneous nerveAxonal degenerationVentral rootsSubcutaneous injectionVacuolar degeneration
1994
Arrest of Motor Neuron Disease in wobbler Mice Cotreated with CNTF and BDNF
Mitsumoto H, Ikeda K, Klinkosz B, Cedarbaum J, Wong V, Lindsay R. Arrest of Motor Neuron Disease in wobbler Mice Cotreated with CNTF and BDNF. Science 1994, 265: 1107-1110. PMID: 8066451, DOI: 10.1126/science.8066451.Peer-Reviewed Original ResearchConceptsBrain-derived neurotrophic factorCiliary neurotrophic factorMotor neuron diseaseNeurotrophic factorNeuron diseaseWobbler miceMotor neuron dysfunctionNeuron dysfunctionDisease progressionSubcutaneous injectionMotor neuronsHistological criteriaAnimal modeAnimal modelsAlternate daysSignaling pathwaysDiseaseMiceCellular signaling pathwaysProgressionDysfunctionFactorsCotreatmentNeuronsAdministrationThe effects of ciliary neurotrophic factor on motor dysfunction in wobbler mouse motor neuron disease
Mitsumoto H, Ikeda K, Holmlund T, Greene T, Cedarbaum J, Wong V, Lindsay R. The effects of ciliary neurotrophic factor on motor dysfunction in wobbler mouse motor neuron disease. Annals Of Neurology 1994, 36: 142-148. PMID: 8053649, DOI: 10.1002/ana.410360205.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCiliary Neurotrophic FactorDisease Models, AnimalMiceMice, Neurologic MutantsMotor ActivityMotor Neuron DiseaseNerve Tissue ProteinsWeight GainConceptsCiliary neurotrophic factorNeurotrophic factorMotor neuron diseaseHuman ciliary neurotrophic factorGrip strengthNeuron diseaseBody weightWobbler mouse motor neuron diseaseMotor neuron disease modelMouse motor neuron diseaseFirst neurotrophic factorMean grip strengthImproved muscle strengthVehicle-treated animalsWeeks of treatmentMuscle twitch tensionSurvival-promoting effectsWobbler mouse modelRat ciliary neurotrophic factorMotor dysfunctionControl miceMuscle strengthDisease progressionMotor neuronsTwitch tension
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