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Neurology 2003;61:534-537
© 2003 American Academy of Neurology
Brief Communications

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

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

From the Unit of Molecular Medicine and Division of Pediatric Neurology (Drs. Patrono, Santorelli, and Bertini, G. Di Giacinto), Bambino Gesù Children’s Hospital, and Department of Neurology and ORL (Dr. Santorelli), La Sapienza University, Rome, Department of Neurological Sciences (Drs. De Stefano and Federico), University of Siena, Laboratorio Diagnosi Pre-Postnatale delle Malattie Metaboliche (Dr. Gatti), Istituto Gaslini, Genova, and Institute of Pediatrics (Dr. Benigno), University of Palermo, Italy; INSERM UMR384 et Fédération de génétique humaine Auvergne (Drs. Eymard–Pierre and Boespflug–Tanguy), Faculté de médecine, Clermont–Ferrand, and Service de neuropédiatrie (Dr. Rodriguez), Hôpital Trousseau, Paris, France; Université St. Joseph (Dr. Megarbané), Unité de génétique médicale Beyrouth, Liban; and Service de pediatrie (Dr. Tabarki), Hopital Farhat–Hached, Sousse, Tunisia.

Address correspondence and reprint requests to Dr. E. Bertini, Division of Pediatric Neurology, Unit of Molecular Medicine, Bambino Gesù Hospital, Piazza San Onofrio, 4, 00165 Rome, Italy; e-mail: ebertini{at}tin.it

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.




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