Lafora disease, seizures and sugars.
Lafora disease (LD) is the most severe form of Progressive Myoclonus Epilepsy with teenage onset. It has an autosomal recessive mode of inheritance and is almost universally fatal by the second or third decade of life. To date, there is no prevention or cure. In the last decade, with the identification of the genes responsible for this disease, much knowledge has been gained with the potential for the future development of effective treatment. This review will briefly address clinical issues and will focus on the molecular aspects of the disease.
Andrade
D M
DM
Division of Neurology, Krembil Neuroscience Centre, University of Toronto, Toronto Western Hospital, Toronto, Canada.
Turnbull
J
J
Minassian
B A
BA
D000293:Adolescent; D017668:Age of Onset; D002648:Child; D005838:Genotype; D006801:Humans; D020192:Lafora Disease / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D008562:Membrane Glycoproteins / Q000235:genetics; D010641:Phenotype
C486403:EMP2 protein, human; D008562:Membrane Glycoproteins