2015
Mutation in <i>GM2A</i> Leads to a Progressive Chorea-dementia Syndrome
Salih M, Seidahmed M, Khashab H, Hamad M, Bosley T, Burn S, Myers A, Landsverk M, Crotwell P, Bilguvar K, Mane S, Kruer M. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor And Other Hyperkinetic Movements 2015, 5: 306. DOI: 10.5334/tohm.246.Peer-Reviewed Original ResearchMacular cherry-red spotsChildhood-onset choreaCherry-red spotWhole-exome sequencingMacular findingsProgressive choreaIntractable seizuresHomozygous missense mutationNeurodegenerative courseProfound hypotoniaRare formVolitional movementPhenotypic spectrumChoreaExome sequencingGM2 gangliosidosisHyperacusisPatientsSaudi familyNeurodegenerative disease genesMissense mutationsGangliosidosisHomozygosity mappingVariant phenotypesMutationsMutation in GM2A Leads to a Progressive Chorea-dementia Syndrome
Salih MA, Seidahmed MZ, Khashab H, Hamad MH, Bosley TM, Burn S, Myers A, Landsverk ML, Crotwell PL, Bilguvar K, Mane S, Kruer MC. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor And Other Hyperkinetic Movements 2015, 5: 306. PMID: 26203402, PMCID: PMC4502426, DOI: 10.7916/d8d21wq0.Peer-Reviewed Original ResearchMacular cherry-red spotsChildhood-onset choreaCherry-red spotWhole-exome sequencingMacular findingsProgressive choreaIntractable seizuresHomozygous missense mutationNeurodegenerative courseProfound hypotoniaRare formVolitional movementPhenotypic spectrumChoreaExome sequencingGM2 gangliosidosisHyperacusisPatientsSaudi familyNeurodegenerative disease genesMissense mutationsDisease-associated genesGangliosidosisHomozygosity mappingVariant phenotypes
2014
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