Title:Lafora Progressive Myoclonus Epilepsy: Recent Insights into Cell Degeneration
Volume: 6
Issue: 2
Author(s): Carlos Spuch, Saida Ortolano and Carmen Navarro
Affiliation:
Keywords:
Brain, brain diseases, central nervous system, lafora disease, laforin, malin, neurodegenerative diseases, autosomal recessive, Lafora disease, glycogen synthase activity
Abstract: Lafora disease (LD) is a fatal autosomal recessive form of progressive myoclonus epilepsy. Patients manifest
myoclonus and tonic-clonic seizures, visual hallucinations, intellectual, and progressive neurologic deterioration beginning
in adolescence. The two genes known to be involved in Lafora disease are EPM2A and NHLRC1 (EPM2B). The
EPM2A gene encodes laforin, a dual-specificity protein phosphatase, and the NHLRC1 gene encodes malin, an E3-
ubiquitin ligase. The two proteins interact with each other and, as a complex, are thought to regulate glycogen synthesis. It
may also be considered as a disorder of carbohydrate metabolism because of the formation of polyglucosan inclusion bodies
in neural and other tissues due to abnormalities of the proteins laforin or malin. The review also outlines important
patents related to Lafora disease.
