2024
Mild cognitive impairment among LRRK2 and GBA1 patients with Parkinson's disease
Thaler A, Livne V, Rubinstein E, Omer N, Faust-Socher A, Cohen B, Giladi N, Shirvan J, Cedarbaum J, Gana-Weisz M, Goldstein O, Orr-Urtreger A, Alcalay R, Mirelman A. Mild cognitive impairment among LRRK2 and GBA1 patients with Parkinson's disease. Parkinsonism & Related Disorders 2024, 123: 106970. PMID: 38691978, DOI: 10.1016/j.parkreldis.2024.106970.Peer-Reviewed Original ResearchMild cognitive impairmentIdiopathic PDMovement Disorder SocietyIncidence of mild cognitive impairmentFrequency of mild cognitive impairmentDiagnosis of mild cognitive impairmentCognitive impairmentLRRK2-PDLevel I criteriaParkinson's diseaseLevel II criteriaCarriers of mutationsMotor symptom onsetHoehn and YahrGBA1-PDCognitive batteryGender-matched controlsCognitive domainsEarly-stage PDI criteriaClinical characteristicsPD cohortDisorder SocietySymptom onsetHealthy adults
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 participantsPhenotypeMutationsParticipants