title: Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.
abstract: Cerebrotendinous xanthomatosis (CTX) is a rare, genetically determined error of metabolism. The characteristic clinical symptoms are diarrhea, juvenile cataracts, tendon xanthomas and neuropsychiatric alterations. The aim of this study is to present a pair of identical adult twins with considerable differences in the severity of phenotype. With regards to neuropsychiatric symptoms, the predominant features were severe Parkinsonism and moderate cognitive dysfunctions in the more-affected individual, whereas these alterations in the less-affected patient were only very mild and mild, respectively. The characteristic increase in the concentrations of serum cholestanol and the lesion volumes in dentate nuclei in the brain assessed with magnetic resonance imaging were quite similar in both cases. The lifestyle conditions, including eating habits of the twin pair, were quite similar as well; therefore, currently unknown genetic modifiers or certain epigenetic factors may be responsible for the differences in severity of phenotype. This case series serves as the first description of an identical twin pair with CTX presenting heterogeneous clinical features.
authors.affiliation: Department of Neurology, Faculty of Medicine, Albert Szent-Györgyi Clinical Centre, University of Szeged, Semmelweis u. 6, Szeged, 6725, Hungary.
authors.forename: Dénes
authors.initials: D
authors.lastname: Zádori
authors.affiliation: Department of Neurology, Faculty of Medicine, Albert Szent-Györgyi Clinical Centre, University of Szeged, Semmelweis u. 6, Szeged, 6725, Hungary.
authors.forename: László
authors.initials: L
authors.lastname: Szpisjak
authors.affiliation: Division of Clinical Genetics, Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: László
authors.initials: L
authors.lastname: Madar
authors.affiliation: Division of Metabolic Diseases, Department of Internal Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Viktória Evelin
authors.initials: VE
authors.lastname: Varga
authors.affiliation: Department of Forensic Medicine, Faculty of Medicine, Albert Szent-Györgyi Clinical Centre, University of Szeged, Szeged, Hungary.
authors.forename: Bernadett
authors.initials: B
authors.lastname: Csányi
authors.affiliation: Department of Neurology, Faculty of Medicine, Albert Szent-Györgyi Clinical Centre, University of Szeged, Semmelweis u. 6, Szeged, 6725, Hungary.
authors.forename: Krisztina
authors.initials: K
authors.lastname: Bencsik
authors.affiliation: Division of Clinical Genetics, Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: István
authors.initials: I
authors.lastname: Balogh
authors.affiliation: Division of Metabolic Diseases, Department of Internal Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Mariann
authors.initials: M
authors.lastname: Harangi
authors.affiliation: Department of Forensic Medicine, Faculty of Medicine, Albert Szent-Györgyi Clinical Centre, University of Szeged, Szeged, Hungary.
authors.forename: Éva
authors.initials: É
authors.lastname: Kereszty
authors.affiliation: Department of Neurology, Faculty of Medicine, Albert Szent-Györgyi Clinical Centre, University of Szeged, Semmelweis u. 6, Szeged, 6725, Hungary. laszlo.vecsei@med.u-szeged.hu.|MTA-SZTE Neuroscience Research Group, Szeged, Hungary. laszlo.vecsei@med.u-szeged.hu.
authors.forename: László
authors.initials: L
authors.lastname: Vécsei
authors.affiliation: Department of Neurology, Faculty of Medicine, Albert Szent-Györgyi Clinical Centre, University of Szeged, Semmelweis u. 6, Szeged, 6725, Hungary.
authors.forename: Péter
authors.initials: P
authors.lastname: Klivényi
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D014430:Twins, Monozygotic; D019294:Xanthomatosis, Cerebrotendinous / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*
keywords: Cerebrotendinous Xanthomatosis; Cognitive dysfunction; Heterogeneous phenotype; Identical twins; Parkinsonism