The autosomal recessively inherited progressive myoclonus epilepsies and their genes

Authors

  • Nivetha Ramachandran,

    1. Program in Genetics and Genome Biology, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada
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  • Jean-Marie Girard,

    1. Program in Genetics and Genome Biology, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada
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  • Julie Turnbull,

    1. Program in Genetics and Genome Biology, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada
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  • Berge A. Minassian

    1. Program in Genetics and Genome Biology, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada
    2. Division of Neurology, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada
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Address correspondence to Berge A. Minassian, MD, Room 6536B, The Hospital for Sick Children, 555 University Ave., Toronto, Ontario, M5G 1X8, Canada. E-mail: berge.minassian@sickkids.ca

Summary

Autosomal recessively inherited progressive myoclonus epilepsies (PMEs) include Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis (cherry-red spot myoclonus), action myoclonus–renal failure syndrome, and type III Gaucher disease. Almost all the autosomal recessively inherited PMEs are lysosomal diseases, with the exception of Lafora disease in which neither the accumulating material nor the gene products are in lysosomes. Progress in identifying the causative defects of PME is near-complete. Much work lies ahead to resolve the pathobiology and neurophysiology of this group of devastating disorders.

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