FBXO7–R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family
Gündüz A, Eken A, Bilgiç B, Hanagasi HA, Bilgüvar K, Günel M, Başak A, Ertan S. FBXO7–R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family. Parkinsonism & Related Disorders 2014, 20: 1253-1256. PMID: 25169713, DOI: 10.1016/j.parkreldis.2014.07.016.Peer-Reviewed Original ResearchConceptsEarly-onset parkinsonismPostural instabilityIndex caseFBXO7 mutationsPallido-pyramidal syndromeTremor-dominant parkinsonismIntrafamilial phenotypic variationDiverse clinical phenotypesMild parkinsonismClinical spectrumSevere apathyAtypical featuresParkinsonismOnset parkinsonismClinical phenotypeConsanguineous parentsMonogenic causesChoreaExomic sequencingSpeech problemsElder sisterGenetic findingsKurdish originPatientsMaternal grandfather