2025
Neuroimmune pathophysiology of long COVID
Moen J, Baker C, Iwasaki A. Neuroimmune pathophysiology of long COVID. Psychiatry And Clinical Neurosciences 2025 PMID: 40536011, DOI: 10.1111/pcn.13855.Peer-Reviewed Original ResearchSARS-CoV-2 infectionNeuroimmune interactionsNeurological symptomsPost-acute symptoms of COVID-19Manifestations of SARS-CoV-2 infectionNeurological manifestations of SARS-CoV-2 infectionLong COVIDDevelopment of therapiesInfection syndromeChemosensory dysfunctionLong-term symptomsSymptoms of COVID-19Neuroimmune mechanismsPeripheral neuropathyAcute infectionNeuroimmune crosstalkNeurological manifestationsAnimal modelsAutopsy studiesPost-acute symptomsRespiratory illnessPersistent long-term symptomsNervous systemSARS-CoV-2Infection
2024
Rocky Mountain Spotted Fever Encephalitis and “Starry Sky” Pattern on MRI
Mikhaiel J, Parasram M, Park J, Cappucci S, McGuone D, Falcone G, Sheth K, Gilmore E. Rocky Mountain Spotted Fever Encephalitis and “Starry Sky” Pattern on MRI. The Neurologist 2024, 30: 34-38. PMID: 39382206, DOI: 10.1097/nrl.0000000000000586.Peer-Reviewed Original ResearchMagnetic resonance imagingPetechial rashCase reportDiffusion restrictionMagnetic resonance imaging brainMagnetic resonance imaging brain findingsRepeat MRI brainRocky Mountain Spotted FeverUrinary tract infectionFoci of diffusion restrictionRight centrum semiovaleProgression to comaPerivascular lymphocytic infiltrateDiffuse petechial rashTract infectionsClinical presentationViral cultureClinical improvementMRI brainLymphocytic infiltrationLumbar punctureSkin biopsiesElevated proteinNeurological manifestationsPunctate foci
2023
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
Crotti L, Spazzolini C, Nyegaard M, Overgaard M, Kotta M, Dagradi F, Sala L, Aiba T, Ayers M, Baban A, Barc J, Beach C, Behr E, Bos J, Cerrone M, Covi P, Cuneo B, Denjoy I, Donner B, Elbert A, Eliasson H, Etheridge S, Fukuyama M, Girolami F, Hamilton R, Horie M, Iascone M, Jiménez-Jaimez J, Jensen H, Kannankeril P, Kaski J, Makita N, Muñoz-Esparza C, Odland H, Ohno S, Papagiannis J, Porretta A, Prandstetter C, Probst V, Robyns T, Rosenthal E, Rosés-Noguer F, Sekarski N, Singh A, Spentzou G, Stute F, Tfelt-Hansen J, Till J, Tobert K, Vinocur J, Webster G, Wilde A, Wolf C, Ackerman M, Schwartz P. Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry. European Heart Journal 2023, 44: 3357-3370. PMID: 37528649, PMCID: PMC10499544, DOI: 10.1093/eurheartj/ehad418.Peer-Reviewed Original ResearchConceptsClinical presentationPrimary neurological manifestationsCardiac structural abnormalitiesLife-threatening arrhythmia syndromesArrhythmic event rateAbsence of symptomsLife-threatening arrhythmiasSodium channel blockersCongenital heart defectsAntiadrenergic interventionsCardiac eventsHeart failureNeurological manifestationsUnderlying molecular mechanismsDefinitive recommendationsClinical severityChannel blockersObservational studySudden deathIndex caseArrhythmia syndromesHeart defectsPrevalent phenotypeStructural abnormalitiesCurrent managementNeuroimaging findings and neurological manifestations in hospitalized COVID-19 patients: Impact of cancer and ventilatory support status
McCarthy L, Khegai O, Goldstein J, Belani P, Pawha P, Kihira S, Mathew B, Gururangan K, Hao Q, Singh A, Navis A, Delman B, Jette N, Balchandani P. Neuroimaging findings and neurological manifestations in hospitalized COVID-19 patients: Impact of cancer and ventilatory support status. PLOS ONE 2023, 18: e0283614. PMID: 36961861, PMCID: PMC10038284, DOI: 10.1371/journal.pone.0283614.Peer-Reviewed Original ResearchConceptsHospitalized COVID-19 patientsMagnetic resonance imagingVentilatory supportNeurological manifestationsCOVID-19 patientsNeuroimaging findingsSupport statusImpact of cancerPolymerase chain reaction-confirmed COVID-19Mount Sinai Health SystemNon-cancer patientsAssociated with neurological manifestationsRetrospective observational studySinai Health SystemClinical neurological manifestationsHealth systemCentral nervous systemCOVID-19 cohortMorbidity associated with COVID-19Cancer statusAcute/subacute infarctionProthrombotic stateCOVID-19Systemic illnessFocal weaknessMutations in Parkinsonism-linked endocytic proteins synaptojanin1 and auxilin have synergistic effects on dopaminergic axonal pathology
Ng X, Wu Y, Lin Y, Yaqoob S, Greene L, De Camilli P, Cao M. Mutations in Parkinsonism-linked endocytic proteins synaptojanin1 and auxilin have synergistic effects on dopaminergic axonal pathology. Npj Parkinson's Disease 2023, 9: 26. PMID: 36792618, PMCID: PMC9932162, DOI: 10.1038/s41531-023-00465-5.Peer-Reviewed Original ResearchParkinson's diseaseMutant miceStriatal nerve terminalsSingle mutant miceDouble mutant miceDAergic markersDAergic terminalsAtypical parkinsonismDAergic neuronsStriatal interneuronsNeurological manifestationsAxonal pathologyDopaminergic inputNerve terminalsSynaptojanin 1Dystrophic changesPD pathogenesisKnockout miceRisk proteinsSynaptic defectsNeurodegenerative disordersParkinsonismMiceAdaptive changesDisease
2022
The emergence of arboviruses changes the profile of viral meningitis in Salvador, Bahia: A case series
Dias T, Tauro L, Macêdo L, Brito L, Ribeiro V, Santos C, Jacob-Nascimento L, Vilas-Boas L, Amado C, Barbosa P, Reis J, Campos G, Ribeiro G, Siqueira I, Silva L, Reis M. The emergence of arboviruses changes the profile of viral meningitis in Salvador, Bahia: A case series. Frontiers In Tropical Diseases 2022, 3: 1023588. DOI: 10.3389/fitd.2022.1023588.Peer-Reviewed Original ResearchVaricella-zoster virusViral meningitisReverse transcription-PCRDifferent arbovirusesAcute febrile illnessPossible viral etiologyCHIKV IgMDENV IgMFebrile illnessNeurological manifestationsCase seriesCommon etiologyViral etiologyZoster virusDENV serotypesNS1 antigenDifferential diagnosisCSF samplesMeningitisZIKVCHIKVPatientsViral surveillanceEtiologyEmergence of arbovirusesVenglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial
Schiffmann R, Cox TM, Dedieu JF, Gaemers SJM, Hennermann JB, Ida H, Mengel E, Minini P, Mistry P, Musholt PB, Scott D, Sharma J, Peterschmitt MJ. Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial. Brain 2022, 146: 461-474. PMID: 36256599, PMCID: PMC9924909, DOI: 10.1093/brain/awac379.Peer-Reviewed Original ResearchConceptsGaucher disease type 3Years of treatmentEnzyme replacement therapyWeek 26Biomarker reductionLEAP trialWeek 52Patients 9Neurological manifestationsReplacement therapyPlasma concentrationsType 3Day 1Brain volumeAcid β-glucosidase activityImiglucerase enzyme replacement therapyDiverse neurological manifestationsSystemic disease parametersSerious adverse eventsInfiltrative lung diseaseWhole brain volumeRegional brain activityExploratory endpointsPrimary endpointSecondary endpointsInto the unknown: Diagnosing mysterious brain lesions
Kassab I, Isada C, Azar MM, Sarsam N, Jiang M, Camelo‐Piragua S, Kaul D, Malinis M. Into the unknown: Diagnosing mysterious brain lesions. Transplant Infectious Disease 2022, 24: e13829. PMID: 35307917, DOI: 10.1111/tid.13829.Peer-Reviewed Case Reports and Technical NotesConceptsBrain abscessesImmune statusPancreas-kidney transplant recipientsCentral nervous system infectionBartonella henselaeMetagenomic next-generation sequencingCSF metagenomic next-generation sequencingMultiple brain abscessesVisceral organ involvementPatient's immune statusNervous system infectionCat-scratch diseaseTransplant recipientsOcular involvementOrgan involvementSystem infectionNeurological manifestationsCat bitesBrain lesionsDiagnostic approachNext-generation sequencingAbscessZoonotic pathogensClinicopathological conferenceHenselaeNeuroimaging Findings & Neurological Symptoms in COVID-19 Patients with & without Cancer: A Retrospective Multi-Center Observational Study
McCarthy L, Khegai O, Goldstein J, Belani P, Pawha P, Kihira S, Mathew B, Gururangan K, Hao Q, Singh A, Navis A, Delman B, Jette N, Balchandani P. Neuroimaging Findings & Neurological Symptoms in COVID-19 Patients with & without Cancer: A Retrospective Multi-Center Observational Study. Proceedings Of The International Society For Magnetic Resonance In Medicine ... Scientific Meeting And Exhibition. 2022 DOI: 10.58530/2022/0734.Peer-Reviewed Original ResearchAssociated with neuroimaging abnormalitiesNeuroimaging abnormalitiesCOVID-19 patientsNeurological symptomsRetrospective multi-center observational studyNeurological manifestationsHospitalized COVID-19 patientsNeuroimaging findingsSignal hyperintensitiesMulti-center observational studyAcute/subacute infarctionNeuroimagingRetrospective analysisThree patients of transthyretin amyloidosis in a Japanese family with amyloidogenic transthyretin Thr49Ser (p.Thr69Ser) variant
Ikura H, Kitakata H, Endo J, Moriyama H, Sano M, Tsujikawa H, Sawano M, Masuda T, Ohki T, Ueda M, Kosaki K, Fukuda K. Three patients of transthyretin amyloidosis in a Japanese family with amyloidogenic transthyretin Thr49Ser (p.Thr69Ser) variant. European Journal Of Medical Genetics 2022, 65: 104451. PMID: 35149236, DOI: 10.1016/j.ejmg.2022.104451.Peer-Reviewed Original ResearchConceptsTTR amyloid depositionTTR gene sequencingFirst patientAmyloid depositionCardiac symptomsMyocardial biopsiesHeart failure symptomsEarly therapeutic interventionCarpal tunnel syndromeFat pad biopsyFamily medical historyRare autosomal dominant disorderTTR geneEarly genetic diagnosisAutosomal dominant disorderNeurological manifestationsSecond patientClinical manifestationsFinal patientTunnel syndromeFamilial patientsMedical historyPatient prognosisFailure symptomsFamilial history
2021
Neurologic Manifestations of COVID-19
Delavari F, Varzaneh F, Rezaei N. Neurologic Manifestations of COVID-19. Advances In Experimental Medicine And Biology 2021, 1318: 343-353. PMID: 33973188, DOI: 10.1007/978-3-030-63761-3_20.Peer-Reviewed Original ResearchConceptsNeurological manifestationsPredisposition to multiple sclerosisPro-inflammatory stateManifestations of anosmiaCOVID-19 patientsAcute hemorrhagic encephalitisNeural invasionOlfactory bulbSystemic hyperinflammationNeurological symptomsSensory disturbanceAffected patientsAcute demyelinationManifestations rangeCerebrovascular injuryBrain stemHemorrhagic encephalitisGlial cellsMental statusEarly manifestationMultiple sclerosisNervous systemPatientsProlonged effectHyperinflammationBiallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Mau-Them F, Haack T, Consortium P, Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis M, Grand K, Graham J, Lewis R, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard J, Chrast R, Auer-Grumbach M, Alkuraya F, Shamseldin H, Al Tala S, Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer M, Kamsteeg E, Takiyama Y, Züchner S, Baets J, Synofzik M, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee H, Ampatzis K, Pierson T, Senderek J. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain 2021, 144: 1422-1434. PMID: 33970200, PMCID: PMC8219359, DOI: 10.1093/brain/awab041.Peer-Reviewed Original ResearchConceptsHereditary spastic paraplegiaPure hereditary spastic paraplegiaGlobal developmental delaySpastic paraplegiaNervous systemNeurological diseasesComplicated hereditary spastic paraplegiaDevelopmental delayAbnormal motor behaviorRespiratory decompensationSpastic tetraplegiaNeurological manifestationsTruncating changesMissense substitutionsBiallelic variantsParaplegiaMotor behaviorDiseaseNeural differentiationUnknown specificityHuman diseasesMitochondrial diseaseDecompensationSpasticityTetraplegiaNonepileptic Myoclonus in COVID-19: Case Report
Hewan H, Yang A, Vaddiparti A, Keung B. Nonepileptic Myoclonus in COVID-19: Case Report. The Neurohospitalist 2021, 12: 86-89. PMID: 34950392, PMCID: PMC8689525, DOI: 10.1177/19418744211004315.Peer-Reviewed Original ResearchCOVID-19Different neurological manifestationsHigh-dose steroidsImmune-mediated syndromeAnti-epileptic therapySARS-CoV-2Cyclical feversNonepileptic myoclonusMyoclonus syndromeIll patientsNeurological manifestationsCase reportMovement abnormalitiesMyoclonusNovel coronavirusPatientsSyndromeRecovery phaseFeverTherapyInfectionSteroidsAbnormalitiesDiseaseNeurological manifestations as the predictors of severity and mortality in hospitalized individuals with COVID-19: a multicenter prospective clinical study
Amanat M, Rezaei N, Roozbeh M, Shojaei M, Tafakhori A, Zoghi A, Darazam IA, Salehi M, Karimialavijeh E, Lima BS, Garakani A, Vaccaro A, Ramezani M. Neurological manifestations as the predictors of severity and mortality in hospitalized individuals with COVID-19: a multicenter prospective clinical study. BMC Neurology 2021, 21: 116. PMID: 33726699, PMCID: PMC7960879, DOI: 10.1186/s12883-021-02152-5.Peer-Reviewed Original ResearchConceptsShortness of breathPredictors of severityTaste dysfunctionNeurological manifestationsNeurological symptomsSevere casesCOVID-19Multicenter prospective clinical studyMulti-center prospective studyHyposmia/anosmiaGuillain-Barré syndromeWeeks of dischargeProspective clinical studyCommon neurological symptomsTime of admissionNon-neurological manifestationsCoronavirus disease 2019COVID-19 diseaseCerebrovascular eventsChest tightnessStatus epilepticusEligible casesNeurological findingsProspective studyMild headache
2020
SARS-CoV-2 pathophysiology and its clinical implications: An integrative overview of the pharmacotherapeutic management of COVID-19
Tsatsakis A, Calina D, Falzone L, Petrakis D, Mitrut R, Siokas V, Pennisi M, Lanza G, Libra M, Doukas SG, Doukas PG, Kavali L, Bukhari A, Gadiparthi C, Vageli DP, Kofteridis DP, Spandidos DA, Paoliello MMB, Aschner M, Docea AO. SARS-CoV-2 pathophysiology and its clinical implications: An integrative overview of the pharmacotherapeutic management of COVID-19. Food And Chemical Toxicology 2020, 146: 111769. PMID: 32979398, PMCID: PMC7833750, DOI: 10.1016/j.fct.2020.111769.Peer-Reviewed Original ResearchConceptsAcute respiratory distress syndromeClinical symptomsLife-threatening acute respiratory distress syndromeCOVID-19SARS-CoV-2 infectionPeripheral neurological manifestationsSARS-CoV-2 pathophysiologyAcute respiratory distressRespiratory distress syndromeCOVID-19 infectionSpecific therapeutic managementSARS-CoV-2 virusSARS-CoV-2Present reviewPharmacotherapeutic managementGastrointestinal symptomsRenal dysfunctionDistress syndromeNeurological manifestationsRespiratory distressMild diseaseTherapeutic managementHealthy patientsCancer patientsCommon manifestation
2019
Thrombotic thrombocytopenic purpura (TTP) presenting with severe neurological manifestations in a patient with well-controlled HIV-1 (P4.9-010)
Kimbrough T, Sanmartin P, Litvinov B, Navaratnam D. Thrombotic thrombocytopenic purpura (TTP) presenting with severe neurological manifestations in a patient with well-controlled HIV-1 (P4.9-010). Neurology 2019, 92 DOI: 10.1212/wnl.92.15_supplement.p4.9-010.Peer-Reviewed Original Research
2018
Treatment of Neurological Symptoms in Wilson Disease
Vives-Rodriguez A, Robakis D, Bamford N. Treatment of Neurological Symptoms in Wilson Disease. Clinical Gastroenterology 2018, 107-120. DOI: 10.1007/978-3-319-91527-2_6.Peer-Reviewed Original ResearchNeurological symptomsWilson's diseaseNeurological manifestationsTherapeutic optionsMovement disordersCommon neurological manifestationsDifferent therapeutic optionsResidual neurological symptomsUse of medicationsBrain copper accumulationQuality of lifeGait impairmentPartial improvementNeurological aspectsSymptomsDiseaseDisordersManifestationsCopper accumulationMost casesMedicationsDystoniaParkinsonismPatientsOptions
2017
Antiviral CD8 T cells induce Zika-virus-associated paralysis in mice
Jurado KA, Yockey LJ, Wong PW, Lee S, Huttner AJ, Iwasaki A. Antiviral CD8 T cells induce Zika-virus-associated paralysis in mice. Nature Microbiology 2017, 3: 141-147. PMID: 29158604, PMCID: PMC5780207, DOI: 10.1038/s41564-017-0060-z.Peer-Reviewed Original ResearchConceptsCentral nervous systemZIKV infectionZika virusT cellsNeurological complicationsNervous systemBlood-brain barrier breakdownAntiviral CD8 T cellsHigh viral burdenIFNAR knockout miceCD8 T cellsEffector T cellsSusceptible mouse modelBlood-brain barrierNon-haematopoietic cellsSite of infectionIFNAR1 deficiencyViral burdenNeurological manifestationsGuillain-BarréBarrier breakdownMouse modelKnockout miceAstrocytes resultsAntiviral activityParkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons
Cao M, Wu Y, Ashrafi G, McCartney AJ, Wheeler H, Bushong EA, Boassa D, Ellisman MH, Ryan TA, De Camilli P. Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons. Neuron 2017, 93: 882-896.e5. PMID: 28231468, PMCID: PMC5340420, DOI: 10.1016/j.neuron.2017.01.019.Peer-Reviewed Original ResearchConceptsDopaminergic axonsEarly-onset parkinsonism patientsEndocytic dysfunctionNeurological manifestationsParkinsonism patientsDystrophic changesParkinson's diseaseDorsal striatumHuman patientsClathrin-coated intermediatesParkin levelsHomozygous mutationMutant brainsSynaptojanin 1Domain mutationsTerminal changesPatientsStriking accumulationAxonsDiseaseMiceSynapsesSynaptic vesicle endocytosisMutationsDysfunction
2015
Perineural granulomas in cutaneous sarcoidosis may be associated with sarcoidosis small‐fiber neuropathy
Munday WR, McNiff J, Watsky K, DiCapua D, Galan A. Perineural granulomas in cutaneous sarcoidosis may be associated with sarcoidosis small‐fiber neuropathy. Journal Of Cutaneous Pathology 2015, 42: 465-470. PMID: 25757612, DOI: 10.1111/cup.12484.Peer-Reviewed Original ResearchConceptsPerineural granulomasCutaneous sarcoidosisSmall fiber neuropathyProximal upper extremityUpper extremitySensory disturbanceLower extremitiesMultiple pink papulesSmall cutaneous nervesDistal upper extremityProximal lower extremityDistal lower extremityEvident skin lesionsCutaneous nerveConsecutive patientsNeurological manifestationsSarcoidosis patientsUnknown etiologyPink papulesClinical significanceSkin lesionsSarcoidosisAnatomical distributionProximal extremitiesGranulomas
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