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01-10-2014 | Original Communication

Leukoencephalopathy, cerebral calcifications and cysts: a family study

Authors: Kinga Karlinger, Ádám Domonkos Tárnoki, Dávid László Tárnoki, Anne Polvi, Anna-Elina Lehesjoki, Andrea Kelemen, László Szegedi, Eszter Turányi, Anita Kamondi, Anna Szűcs

Published in: Journal of Neurology | Issue 10/2014

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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Title: Leukoencephalopathy, cerebral calcifications and cysts: a family study
Authors: Kinga Karlinger
Ádám Domonkos Tárnoki
Dávid László Tárnoki
Anne Polvi
Anna-Elina Lehesjoki
Andrea Kelemen
László Szegedi
Eszter Turányi
Anita Kamondi
Anna Szűcs
Publication date: 01-10-2014
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 10/2014
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-014-7393-9

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Leukoencephalopathy, cerebral calcifications and cysts: a family study

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