2023
Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy
Boock V, Roy B, Pfeffer G, Kimonis V. Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy. Current Opinion In Neurology 2023, 36: 432-440. PMID: 37678339, DOI: 10.1097/wco.0000000000001184.Peer-Reviewed Original ResearchMeSH KeywordsFrontotemporal DementiaGenetic TherapyHumansMuscular Dystrophies, Limb-GirdleValosin Containing ProteinConceptsInclusion body myopathyPotential therapeutic targetValosin-containing proteinPaget's diseasePreclinical modelsTherapeutic approachesPotential therapyControl trialRare diseaseTherapeutic targetBody myopathyVivo modelFrontotemporal dementiaVCP mutationsMultisystem proteinopathyPathway involvementDiseaseTherapyMitochondrial dysfunctionTherapeutic developmentGene therapyMissense mutationsFunction activityATPase activityRCTsProvisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy
Roy B, Peck A, Evangelista T, Pfeffer G, Wang L, Diaz‐Manera J, Korb M, Wicklund M, Milone M, Freimer M, Kushlaf H, Villar‐Quiles R, Stojkovic T, Needham M, Palmio J, Lloyd T, Keung B, Mozaffar T, Weihl C, Kimonis V. Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy. Annals Of Clinical And Translational Neurology 2023, 10: 686-695. PMID: 37026610, PMCID: PMC10187720, DOI: 10.1002/acn3.51760.Peer-Reviewed Original ResearchMeSH KeywordsHumansMuscular DiseasesMuscular Dystrophies, Limb-GirdlePhenotypeProteostasis DeficienciesValosin Containing ProteinConceptsVCP myopathyMultisystem proteinopathyPercent of patientsConsensus-based guidelinesOnly definitive wayHeterogeneous clinical phenotypesMagnetic resonance imagingMulti-gene panel sequencingAutosomal dominant patternRare genetic disorderPathogenic genetic variantsElectrodiagnostic studiesDisease mimicsLimb-girdle muscular dystrophy phenotypePatient advocacy organizationsVCP variantBone diseaseMuscle biopsyProvisional recommendationsDiagnostic uncertaintyPatient careClinical phenotypeMuscular dystrophy phenotypeResonance imagingMyopathy
2022
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
Korb M, Peck A, Alfano LN, Berger KI, James MK, Ghoshal N, Healzer E, Henchcliffe C, Khan S, Mammen PPA, Patel S, Pfeffer G, Ralston SH, Roy B, Seeley WW, Swenson A, Mozaffar T, Weihl C, Kimonis V. Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Orphanet Journal Of Rare Diseases 2022, 17: 23. PMID: 35093159, PMCID: PMC8800193, DOI: 10.1186/s13023-022-02172-5.Peer-Reviewed Original ResearchMeSH KeywordsAmyotrophic Lateral SclerosisCell Cycle ProteinsHumansMutationMyositis, Inclusion BodyOsteitis DeformansStandard of CareValosin Containing ProteinConceptsStandard of careAmyotrophic lateral sclerosisCharcot Marie Tooth diseaseMultisystem proteinopathyFrontotemporal dementiaSupportive therapyValosin-containing proteinMarie Tooth diseaseExpert consensus recommendationsRare inherited disorderInclusion body myopathyMulti-gene panel sequencingSingle-gene testingNeuromuscular centerAppropriate pharmacotherapyMultidisciplinary carePaget's diseaseSecondary complicationsVCP diseaseMultisystem involvementMovement disordersPatient advocacy organizationsPhysical therapyPractice guidelinesConsensus recommendations
2019
Clinical Reasoning: Progressive proximal weakness in a 56-year-old man with bone pain
Torabi T, Huttner A, Nowak RJ, Roy B. Clinical Reasoning: Progressive proximal weakness in a 56-year-old man with bone pain. Neurology 2019, 93: 939-944. PMID: 31740511, DOI: 10.1212/wnl.0000000000008535.Peer-Reviewed Original ResearchDiagnosis, DifferentialElectromyographyFrontotemporal DementiaHumansLambert-Eaton Myasthenic SyndromeMaleMiddle AgedMuscle WeaknessMuscular Dystrophies, Limb-GirdleMyositisMyositis, Inclusion BodyOsteitis DeformansPainPolyradiculoneuropathy, Chronic Inflammatory DemyelinatingValosin Containing Protein