2021
Quantitative digital clock drawing test as a sensitive tool to detect subtle cognitive impairments in early stage Parkinson's disease
Schejter-Margalit T, Kizony R, Shirvan J, Cedarbaum J, Bregman N, Thaler A, Giladi N, Mirelman A. Quantitative digital clock drawing test as a sensitive tool to detect subtle cognitive impairments in early stage Parkinson's disease. Parkinsonism & Related Disorders 2021, 90: 84-89. PMID: 34416663, DOI: 10.1016/j.parkreldis.2021.08.002.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overCase-Control StudiesCognitionCognitive DysfunctionFemaleGenotypeGlucosylceramidaseHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MaleMental Status and Dementia TestsMiddle AgedMutationNeuropsychological TestsParkinson DiseaseReproducibility of ResultsROC CurveSensitivity and SpecificityConceptsColor Trails TestSubtle cognitive declineClock Drawing TestCognitive AssessmentCognitive profileCognitive declineCognitive testsDigital clock drawing testStandardized neuropsychological testsDrawing TestDigital cognitive assessmentSubtle cognitive impairmentCurrent standardized testsClock-drawing testEarly cognitive declineMontreal Cognitive AssessmentTrails TestNeuropsychological testsSubtle impairmentsHealthy controls
2020
A 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
2019
Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk?
Goldstein O, Gana-Weisz M, Cohen-Avinoam D, Shiner T, Thaler A, Cedarbaum JM, John S, Lalioti M, Gurevich T, Bar-Shira A, Mirelman A, Giladi N, Orr-Urtreger A. Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk? Molecular Genetics And Metabolism 2019, 128: 470-475. PMID: 31662221, DOI: 10.1016/j.ymgme.2019.10.001.Peer-Reviewed Original ResearchConceptsPD patientsE326KGBA variantsLRRK2 G2019SDisease riskDisease worldElderly healthy individualsAdditive effectParkinson's disease riskK variantAshkenazi PD patientsCommon genetic risk factorGenetic risk factorsRisk factorsCarrier patientsGBA mutationsPD riskHealthy individualsPatientsCarrier stateGaucher diseaseEarlier AAOAshkenazi originAshkenazi controlsStatistical significance