title: Lafora progressive myoclonus epilepsy: recent insights into cell degeneration.
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.
authors.affiliation: Department of Pathology and Neuropathology, University Hospital of Vigo (CHUVI), Hospital of Meixoeiro, Meixoeiro s/n, 36215, Vigo, Spain. carlos.spuch@gmail.com
authors.forename: Carlos
authors.initials: C
authors.lastname: Spuch
authors.forename: Saida
authors.initials: S
authors.lastname: Ortolano
authors.forename: Carmen
authors.initials: C
authors.lastname: Navarro
mesh_terms: D050260:Carbohydrate Metabolism; D002352:Carrier Proteins / Q000235:genetics / Q000502:physiology*; D006003:Glycogen / Q000096:biosynthesis; D006801:Humans; D020192:Lafora Disease / Q000235:genetics / Q000503:physiopathology*; D009474:Neurons / Q000473:pathology; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics / Q000502:physiology*; D044767:Ubiquitin-Protein Ligases
chemical_list: D002352:Carrier Proteins; D006003:Glycogen; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human