02416nab a2200337 i 4500 publ11682 20191128124134.0 170703s2017 hu o 0|| zxx d 1590-1874 10.1007/s10072-016-2776-6 doi 3147588 mtmt SZTE Publicatio Repozitórium hun zxx Zádori Dénes Different phenotypes in identical twins with cerebrotendinous xanthomatosis [elektronikus dokumentum] : case series / Zádori Dénes Springer-Verlag 2017 481-483 NEUROLOGICAL SCIENCES 38 No. 3 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. Szpisjak László aut Madar László aut Varga Viktória Evelin aut Csányi Bernadett aut Bencsik Krisztina aut Balogh István aut Harangi Mariann aut Kereszty Éva Margit aut Vécsei László aut Klivényi Péter aut http://publicatio.bibl.u-szeged.hu/11682/1/Zadori_D._NEUS_D_16_00859_R1_u_.pdf Dokumentum-elérés http://publicatio.bibl.u-szeged.hu/11682/7/Neurol_sci_2017_3_tartj.pdf Dokumentum-elérés