The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
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.
Ramachandran
Nivetha
N
Program in Genetics and Genome Biology, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
Girard
Jean-Marie
JM
Turnbull
Julie
J
Minassian
Berge A
BA
D005776:Gaucher Disease / Q000235:genetics; D015870:Gene Expression / Q000235:genetics*; D006801:Humans; D020192:Lafora Disease / Q000235:genetics*; D009081:Mucolipidoses / Q000235:genetics; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D020194:Unverricht-Lundborg Syndrome / Q000235:genetics*