Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy
Per H, Canpolat M, Bayram A, Ulgen E, Baran B, Kardas F, Gumus H, Kumandas S, Bilguvar K, Çağlayan A. Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. Neuropediatrics 2015, 46: 420-423. PMID: 26479764, DOI: 10.1055/s-0035-1565275.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentATP Binding Cassette Transporter 1Cholesterol, HDLCodon, NonsenseExomeFemaleHumansPedigreePeripheral Nervous System DiseasesSequence Analysis, DNASyringomyeliaTangier DiseaseConceptsPeripheral neuropathyTangier diseaseLipid electrophoresisHigh-density lipoprotein levelsPlasma high-density lipoprotein levelsCassette transporter 1 (ABCA1) geneWhole-exome sequencingLike neuropathyPediatric patientsFemale patientsHDL cholesterolLipoprotein levelsSystemic findingsHDL levelsDifferential diagnosisAsymptomatic sisterNeuropathyPatientsTransporter 1 geneDiagnostic testsExome sequencingAdolescent girlsDiagnosisGenetic featuresGenetic diagnosis