2021
Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity
Omer N, Giladi N, Gurevich T, Bar‐Shira A, Gana‐Weisz M, Glinka T, Goldstein O, Kestenbaum M, Cedarbaum J, Mabrouk O, Fraser K, Shirvan J, Orr‐Urtreger A, Mirelman A, Thaler A. Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity. Movement Disorders 2021, 37: 190-195. PMID: 34550621, PMCID: PMC9292990, DOI: 10.1002/mds.28792.Peer-Reviewed Original ResearchConceptsNon-manifesting carriersProdromal Parkinson's diseaseParkinson's diseaseGCase activityClinical phenotypeLower GCase activityCarriers of mutationsLysosomal enzyme glucocerebrosidaseGBA-NMCGBA-PDPD patientsRisk factorsGBA mutationsPD phenotypeG2019S LRRK2GBA geneEnzyme glucocerebrosidaseLRRK2 genePerformance-based measuresAshkenazi JewsDiseaseGroups of participantsPhenotypeMutationsParticipantsMutations in GBA and LRRK2 Are Not Associated with Increased Inflammatory Markers
Thaler A, Omer N, Giladi N, Gurevich T, Bar-Shira A, Gana-Weisz M, Goldstein O, Kestenbaum M, Shirvan J, Cedarbaum J, Orr-Urtreger A, Regev K, Shenhar-Tsarfaty S, Mirelman A. Mutations in GBA and LRRK2 Are Not Associated with Increased Inflammatory Markers. Journal Of Parkinson's Disease 2021, 11: 1285-1296. PMID: 33998549, PMCID: PMC8461659, DOI: 10.3233/jpd-212624.Peer-Reviewed Original ResearchConceptsNon-manifesting carriersRole of inflammationGBA-PDParkinson's diseaseGenetic Parkinson's diseaseLRRK2-PDPD patientsCerebrospinal fluidNon-manifesting mutation carriersAnti-inflammatory treatmentProdromal Parkinson's diseaseGeneral medical conditionsIdiopathic Parkinson's diseaseLRRK2-PD patientsCSF cytokinesGBA-NMCLRRK2-NMCPeripheral cytokinesInflammatory markersIL-10Inflammatory measuresDisease characteristicsIL-1βIL-6Peripheral bloodBiochemical markers for severity and risk in GBA and LRRK2 Parkinson’s disease
Thaler A, Omer N, Giladi N, Gurevich T, Bar-Shira A, Gana-Weisz M, Goldstein O, Kestenbaum M, Cedarbaum J, Orr-Urtreger A, Shenhar-Tsarfaty S, Mirelman A. Biochemical markers for severity and risk in GBA and LRRK2 Parkinson’s disease. Journal Of Neurology 2021, 268: 1517-1525. PMID: 33388928, DOI: 10.1007/s00415-020-10325-4.Peer-Reviewed Original ResearchConceptsNon-manifesting carriersProdromal Parkinson's diseaseWhite blood countParkinson's diseaseMicroalbumin/creatinine ratioNeutrophil/lymphocyte ratioGBA-PD patientsWorse motor performanceGlomerular filtration rateLRRK2 mutation carriersC-reactive proteinIdiopathic Parkinson's diseaseGBA-NMCGBA-PDLRRK2-NMCCreatinine ratioLRRK2-PDLymphocyte ratioVitamin DBlood countFiltration rateIdiopathic PDMutation carriersPD severityBiochemical markers
2020
Metabolic syndrome does not influence the phenotype of LRRK2 and GBA related Parkinson’s disease
Thaler A, Shenhar-Tsarfaty S, Shaked Y, Gurevich T, Omer N, Bar-Shira A, Gana-Weisz M, Goldstein O, Kestenbaum M, Cedarbaum JM, Orr-Urtreger A, Giladi N, Mirelman A. Metabolic syndrome does not influence the phenotype of LRRK2 and GBA related Parkinson’s disease. Scientific Reports 2020, 10: 9329. PMID: 32518334, PMCID: PMC7283235, DOI: 10.1038/s41598-020-66319-9.Peer-Reviewed Original ResearchConceptsMetabolic syndromeParkinson's diseaseLRRK2-NMCLRRK2-PDComponents of MSGBA-Parkinson diseaseMetabolic componentsProdromal Parkinson's diseaseHigh triglyceride levelsIdiopathic Parkinson's diseaseGBA-NMCGBA-PDElevated triglyceridesBlood pressureLRRK2 carriersProdromal featuresTriglyceride levelsPD groupDiseaseDisease statesLaboratory test resultsPrediabetesSyndromeHigh rateTriglyceridesA Possible Modifying Effect of the G2019S Mutation in the LRRK2 Gene on GBA Parkinson's Disease
Omer N, Giladi N, Gurevich T, Bar‐Shira A, Gana‐Weisz M, Goldstein O, Kestenbaum M, Cedarbaum JM, Orr‐Urtreger A, Mirelman A, Thaler A. A Possible Modifying Effect of the G2019S Mutation in the LRRK2 Gene on GBA Parkinson's Disease. Movement Disorders 2020, 35: 1249-1253. PMID: 32353202, DOI: 10.1002/mds.28066.Peer-Reviewed Original ResearchConceptsGBA-PDLRRK2-PDIdiopathic Parkinson's diseaseDisease Rating ScaleParkinson's diseaseTotal Unified Parkinson's Disease Rating ScaleUnified Parkinson's Disease Rating ScaleParkinson's Disease Rating ScaleG2019S LRRK2 mutationBetter olfactionClinical symptomsPatientsGBA genePhenotypic presentationRating ScalePerformance-based measuresPhenotypic expressionDiseaseLower scoresPresentationMutationsSymptoms