Leukoencephalopathy, cerebral calcifications and cysts

A family study

K. Karlinger, Ádám Domonkos Tárnoki, Dávid László Tárnoki, Anne Polvi, Anna Elina Lehesjoki, Andrea Kelemen, László Szegedi, Eszter Turányi, A. Kamondi, Anna Szücs

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1911-1916
Number of pages6
JournalJournal of Neurology
Volume261
Issue number10
DOIs
Publication statusPublished - Jan 1 2014

Fingerprint

Leukoencephalopathies
Cysts
Bone Cysts
Sinusitis
Epilepsy
Mutation
Genes
Cerebroretinal Microangiopathy with Calcifications and Cysts
Leukoencephalopathy Brain Calcifications and Cysts

Keywords

  • Cerebral calcifications
  • Coats plus disease
  • CRMCC
  • Labrune syndrome
  • LCC

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

Cite this

Karlinger, K., Tárnoki, Á. D., Tárnoki, D. L., Polvi, A., Lehesjoki, A. E., Kelemen, A., ... Szücs, A. (2014). Leukoencephalopathy, cerebral calcifications and cysts: A family study. Journal of Neurology, 261(10), 1911-1916. https://doi.org/10.1007/s00415-014-7393-9

Leukoencephalopathy, cerebral calcifications and cysts : A family study. / Karlinger, K.; Tárnoki, Ádám Domonkos; Tárnoki, Dávid László; Polvi, Anne; Lehesjoki, Anna Elina; Kelemen, Andrea; Szegedi, László; Turányi, Eszter; Kamondi, A.; Szücs, Anna.

In: Journal of Neurology, Vol. 261, No. 10, 01.01.2014, p. 1911-1916.

Research output: Contribution to journalArticle

Karlinger, K, Tárnoki, ÁD, Tárnoki, DL, Polvi, A, Lehesjoki, AE, Kelemen, A, Szegedi, L, Turányi, E, Kamondi, A & Szücs, A 2014, 'Leukoencephalopathy, cerebral calcifications and cysts: A family study', Journal of Neurology, vol. 261, no. 10, pp. 1911-1916. https://doi.org/10.1007/s00415-014-7393-9
Karlinger K, Tárnoki ÁD, Tárnoki DL, Polvi A, Lehesjoki AE, Kelemen A et al. Leukoencephalopathy, cerebral calcifications and cysts: A family study. Journal of Neurology. 2014 Jan 1;261(10):1911-1916. https://doi.org/10.1007/s00415-014-7393-9
Karlinger, K. ; Tárnoki, Ádám Domonkos ; Tárnoki, Dávid László ; Polvi, Anne ; Lehesjoki, Anna Elina ; Kelemen, Andrea ; Szegedi, László ; Turányi, Eszter ; Kamondi, A. ; Szücs, Anna. / Leukoencephalopathy, cerebral calcifications and cysts : A family study. In: Journal of Neurology. 2014 ; Vol. 261, No. 10. pp. 1911-1916.
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