2022
Longitudinal clinical and biomarker characteristics of non-manifesting LRRK2 G2019S carriers in the PPMI cohort
Siderowf A, Seibyl J, Coffey C, Tosun-Turgut D, Shaw L, Trojanowski J, Singleton A, Kieburtz K, Toga A, Mollenhauer B, Galasko D, Poewe W, Foroud T, Poston K, Bressman S, Reimer A, Arnedo V, Clark A, Frasier M, Kopil C, Chowdhury S, Casaceli C, Dorsey R, Wilson R, Mahes S, Seibyl J, Salerno C, Ahrens M, Brumm M, Cho H, Fedler J, LaFontant D, Kurth R, Crawford K, Casalin P, Malferrari G, Weisz M, Orr-Urtreger A, Trojanowski J, Shaw L, Montine T, Baglieri C, Christini A, Russell D, Dahodwala N, Giladi N, Factor S, Hogarth P, Standaert D, Hauser R, Jankovic J, Saint-Hilaire M, Richard I, Shprecher D, Fernandez H, Brockmann K, Rosenthal L, Barone P, Espayc A, Rowe D, Marder K, Santiago A, Bressman S, Hu S, Isaacson S, Corvol J, Martinez J, Tolosa E, Tai Y, Politis M, Smejdir D, Rees L, Williams K, Kausar F, Williams K, Richardson W, Willeke D, Peacock S, Sommerfeld B, Freed A, Wakeman K, Blair C, Guthrie S, Harrell L, Hunter C, Thomas C, James R, Zimmerman G, Brown V, Mule J, Hilt E, Ribb K, Ainscough S, Wethington M, Ranola M, Santana H, Moreno J, Raymond D, Speketer K, Carvajal L, Carvalo S, Croitoru I, Garrido A, Payne L, Viswanth V, Severt L, Facheris M, Soares H, Mintun M, Cedarbaum J, Taylor P, Biglan K, Vandenbroucke E, Sheikh Z, Bingol B, Fischer T, Sardi P, Forrat R, Reith A, Egebjerg J, Hillert G, Saba B, Min C, Umek R, Mather J, De Santi S, Post A, Boess F, Taylor K, Grachev I, Avbersek A, Muglia P, Merchant K, Tauscher J. Longitudinal clinical and biomarker characteristics of non-manifesting LRRK2 G2019S carriers in the PPMI cohort. Npj Parkinson's Disease 2022, 8: 140. PMID: 36273008, PMCID: PMC9588016, DOI: 10.1038/s41531-022-00404-w.Peer-Reviewed Original ResearchNon-manifesting carriersParkinson's Progression Markers InitiativeHealthy controlsDAT deficitProgression Markers InitiativeLongitudinal changesBiofluid biomarkersCerebrospinal fluid AbetaNon-motor scalesDopamine transporter imagingPrevention clinical trialsNeurofilament light chainLRRK2 G2019S carriersClinical featuresClinical outcomesPhospho-tauTransporter imagingPPMI cohortTotal tauDAT bindingMean ageSerum biomarkersClinical trialsClinical measuresComprehensive motor
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