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