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Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder

Lossos, Alexander ; Elazar, Nimrod ; Lerer, Israela ; Schueler-Furman, Ora ; Fellig, Yakov ; Glick, Benjamin ; Zimmerman, Bat-El ; Azulay, Haim ; Dotan, Shlomo ; Goldberg, Sharon ; Gomori, John M. ; Ponger, Penina ; Newman, J. P. ; Marreed, Hodaifah ; Steck, Andreas J. ; Schaeren-Wiemers, Nicole ; Mor, Nofar ; Harel, Michal ; Geiger, Tamar ; Eshed-Eisenbach, Yael ; Meiner, Vardiella ; Peles, Elior

In: Brain, 2015, vol. 138, no. 9, p. 2521-2536

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    Title
    • Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder
    Author
    • Lossos, Alexander. 1 Department of Neurology and Agnes Ginges Centre for Human Neurogenetics, Hebrew University-Hadassah Medical Centre, Jerusalem, Israel
    • Elazar, Nimrod. 2 Department of Molecular Cell Biology, Weizmann Institute of Science, Rehovot, Israel
    • Lerer, Israela. 3 Department of Genetics and Metabolic Diseases, Hebrew University-Hadassah Medical Centre, Jerusalem, Israel
    • Schueler-Furman, Ora. 4 Department of Microbiology and Molecular Genetics, Institute for Medical Research Israel-Canada, Faculty of Medicine, Hebrew University, Jerusalem, Israel
    • Fellig, Yakov. 5 Department of Pathology, Hebrew University-Hadassah Medical Centre, Jerusalem, Israel
    • Glick, Benjamin. 6 Paediatric Neuromuscular Service, Alyn Paediatric Rehabilitation Centre, Jerusalem, Israel
    • Zimmerman, Bat-El. 3 Department of Genetics and Metabolic Diseases, Hebrew University-Hadassah Medical Centre, Jerusalem, Israel
    • Azulay, Haim. 5 Department of Pathology, Hebrew University-Hadassah Medical Centre, Jerusalem, Israel
    • Dotan, Shlomo. 7 Department of Ophthalmology, Hebrew University-Hadassah Medical Centre, Jerusalem, Israel
    • Goldberg, Sharon. 7 Department of Ophthalmology, Hebrew University-Hadassah Medical Centre, Jerusalem, Israel
    • Gomori, John M.. 8 Department of Radiology, Hebrew University-Hadassah Medical Centre, Jerusalem, Israel
    • Ponger, Penina. 1 Department of Neurology and Agnes Ginges Centre for Human Neurogenetics, Hebrew University-Hadassah Medical Centre, Jerusalem, Israel
    • Newman, J. P.. 1 Department of Neurology and Agnes Ginges Centre for Human Neurogenetics, Hebrew University-Hadassah Medical Centre, Jerusalem, Israel
    • Marreed, Hodaifah. 3 Department of Genetics and Metabolic Diseases, Hebrew University-Hadassah Medical Centre, Jerusalem, Israel
    • Steck, Andreas J.. 9 Department of Biomedicine, University Hospital Basel, University of Basel, Switzerland
    • Schaeren-Wiemers, Nicole. 9 Department of Biomedicine, University Hospital Basel, University of Basel, Switzerland
    • Mor, Nofar. 2 Department of Molecular Cell Biology, Weizmann Institute of Science, Rehovot, Israel
    • Harel, Michal. 10 Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    • Geiger, Tamar. 10 Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    • Eshed-Eisenbach, Yael. 2 Department of Molecular Cell Biology, Weizmann Institute of Science, Rehovot, Israel
    • Meiner, Vardiella. 3 Department of Genetics and Metabolic Diseases, Hebrew University-Hadassah Medical Centre, Jerusalem, Israel
    • Peles, Elior. 2 Department of Molecular Cell Biology, Weizmann Institute of Science, Rehovot, Israel
    Document Type
    • Postprint
    OAI-PMH Identifier
    • oai:doc.rero.ch:294190
    Summary
    Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy. Lossos et al. describe a family with an early-onset Pelizaeus-Merzbacher disease-like phenotype that slowly evolves into complicated hereditary spastic paraplegia, affecting both the CNS and PNS. Exome sequencing reveals a causative homozygous missense mutation in MAG, which encodes myelin associated glycoprotein