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Leukoencephalopathy, cerebral calcifications and cysts: a family study

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Abstract

We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndrome characterised by epilepsy, cerebral calcifications and cysts, bone abnormalities; progressive neuro-cognitive deterioration and paranasal sinusitis. This syndrome shares several features with leukoencephalopathy with calcifications and cysts also called Labrune syndrome and the condition of cerebroretinal microangiopathy with calcifications and cysts (CRMCC; Coats plus syndrome). Genetic studies in this family did not reveal mutations in the CTC1 gene defected in CRMCC. We interpret our results as those supporting recent findings that despite clinical similarities, late-onset Labrune and Coats plus syndrome might be distinct entities. This family may have Labrune syndrome or a yet unclassified entity; exploration of similar cases could help classifying this one, and related conditions.

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Acknowledgments

This study was supported by the Hungarian Brain Research Program.

Conflicts of interest

The authors declare that they have no conflict of interest.

Ethical standard

All studies have been approved by the institutional ethics committee of the National Institute of Clinical Neurosciences, and have therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. All persons gave their informed consent prior to their inclusion in the study.

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Authors and Affiliations

  1. Department of Radiology and Oncotherapy, Semmelweis University, Budapest, Hungary

    Kinga Karlinger, Ádám Domonkos Tárnoki & Dávid László Tárnoki

  2. Folkhälsan Institute of Genetics, Helsinki, Finland

    Anne Polvi & Anna-Elina Lehesjoki

  3. Neuroscience Center and Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland

    Anna-Elina Lehesjoki

  4. Department of Neurology, Semmelweis University, Budapest, Hungary

    Andrea Kelemen

  5. National Institute of Clinical Neurosciences, 1147 Amerikai rd 57, Budapest, Hungary

    László Szegedi, Anita Kamondi & Anna Szűcs

  6. Institute of Pathology, Semmelweis University, Budapest, Hungary

    Eszter Turányi

Authors
  1. Kinga Karlinger
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  2. Ádám Domonkos Tárnoki
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  3. Dávid László Tárnoki
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  4. Anne Polvi
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  5. Anna-Elina Lehesjoki
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  7. László Szegedi
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  8. Eszter Turányi
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  9. Anita Kamondi
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  10. Anna Szűcs
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Correspondence to Anna Szűcs.

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Karlinger, K., Tárnoki, Á.D., Tárnoki, D.L. et al. Leukoencephalopathy, cerebral calcifications and cysts: a family study. J Neurol 261, 1911–1916 (2014). https://doi.org/10.1007/s00415-014-7393-9

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  • DOI: https://doi.org/10.1007/s00415-014-7393-9

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