2022
Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders
Napolioni V, Fredericks CA, Kim Y, Channappa D, Khan RR, Kim LH, Zafar F, Couthouis J, Davidzon GA, Mormino EC, Gitler AD, Montine TJ, Schüle B, Greicius MD. Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders. Biomedicines 2022, 10: 160. PMID: 35052839, PMCID: PMC8774039, DOI: 10.3390/biomedicines10010160.Peer-Reviewed Original ResearchLewy body spectrum disordersParkinson's diseaseDisease patientsPathogenic roleGlucocerebrosidase 1 (GBA1) geneLewy body dementiaEarly disease onsetSystematic literature searchGaucher disease patientsPhenotypic heterogeneityNeuropathologic evaluationNeuropathologic featuresPathological featuresDisease onsetClinical penetranceSpectrum disorderGBA p.Index caseGaucher diseaseLiterature searchUnaffected relativesPatientsDiseaseNonsense variantAffected subjects
2019
Relative preservation of facial expression recognition in posterior cortical atrophy.
Pressman PS, Gola K, Shdo SM, Miller BL, Fredericks C, Mielke C, Pelak V, Rankin KP. Relative preservation of facial expression recognition in posterior cortical atrophy. Neurology 2019, 92: e1064-e1071. PMID: 30760634, PMCID: PMC6442010, DOI: 10.1212/wnl.0000000000007075.Peer-Reviewed Original ResearchConceptsPosterior cortical atrophyBehavioral variant frontotemporal dementiaAlzheimer's diseaseCortical atrophyHealthy controlsVariant frontotemporal dementiaObservational studyRelative preservationAffective blindsightBvFTD groupFrontotemporal dementiaPatientsGroup differencesAtrophyGroupDementiaDisease