Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

C. Patrono, G. Di Giacinto, E. Eymard-Pierre, F. M. Santorelli, D. Rodriguez, N. De Stefano, A. Federico, R. Gatti, V. Benigno, A. Megarbané, B. Tabarki, O. Boespflug-Tanguy, E. Bertini

Research output: Contribution to journalArticlepeer-review

Abstract

Reported are the clinical, neuroradiologic, and molecular findings in 18 patients with megalencephalic leukoencephalopathy and subcortical cysts (MLC) syndrome. Marked clinical intrafamilial and interfamilial variability in mutation-proven cases was found. A broad spectrum of pathogenetic mutations (missense, splice site, insertion, and deletions) were identified in the MLC1 gene, enlarging the spectrum of allelic variants without a straightforward genotype-phenotype correlation. Five patients did not harbor mutations in MLC1, supporting the existence of at least one other MLC locus.

Original languageEnglish
Pages (from-to)534-537
Number of pages4
JournalNeurology
Volume61
Issue number4
Publication statusPublished - Aug 26 2003

ASJC Scopus subject areas

  • Neuroscience(all)

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