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Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series

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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.

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Acknowledgements

This study was funded by Hungarian Brain Research Program—Grant No. KTIA_NAP_13-A_II/18. Dénes Zádori was supported by the János Bolyai Research Scholarship of the Hungarian Academy of Sciences. The linguistic corrections were made by a native English reader, Jennifer Tusz from Canada.

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Authors and Affiliations

  1. Department of Neurology, Faculty of Medicine, Albert Szent-Györgyi Clinical Centre, University of Szeged, Semmelweis u. 6, Szeged, 6725, Hungary

    Dénes Zádori, László Szpisjak, Krisztina Bencsik, László Vécsei & Péter Klivényi

  2. Division of Clinical Genetics, Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary

    László Madar & István Balogh

  3. Division of Metabolic Diseases, Department of Internal Medicine, University of Debrecen, Debrecen, Hungary

    Viktória Evelin Varga & Mariann Harangi

  4. Department of Forensic Medicine, Faculty of Medicine, Albert Szent-Györgyi Clinical Centre, University of Szeged, Szeged, Hungary

    Bernadett Csányi & Éva Kereszty

  5. MTA-SZTE Neuroscience Research Group, Szeged, Hungary

    László Vécsei

Authors
  1. Dénes Zádori
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  2. László Szpisjak
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  3. László Madar
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  4. Viktória Evelin Varga
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  5. Bernadett Csányi
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  6. Krisztina Bencsik
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  7. István Balogh
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  8. Mariann Harangi
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  9. Éva Kereszty
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  10. László Vécsei
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  11. Péter Klivényi
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Corresponding author

Correspondence to László Vécsei.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

Written informed consent was obtained from the patients for video recording and the publication of this study (institutional research committee registration numbers are 150/2014. and 44/2016., respectively). All procedures applied during the assessment of patients were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary video 1. The Parkinsonian features of the more affected member of the identical twin pair in OFF state (AVI 22002 kb)

Supplementary video 2. The Parkinsonian features of the more affected member of the identical twin pair in ON state following levodopa challenge (AVI 19666 kb)

Supplementary video 3. The very slight Parkinsonian features of the less affected member of the identical twin pair (AVI 19687 kb)

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Zádori, D., Szpisjak, L., Madar, L. et al. Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series. Neurol Sci 38, 481–483 (2017). https://doi.org/10.1007/s10072-016-2776-6

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  • DOI: https://doi.org/10.1007/s10072-016-2776-6

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