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Recent Patents on Endocrine, Metabolic & Immune Drug Discovery

Editor-in-Chief

ISSN (Print): 1872-2148
ISSN (Online): 2212-3334

Lafora Progressive Myoclonus Epilepsy: Recent Insights into Cell Degeneration

Author(s): Carlos Spuch, Saida Ortolano and Carmen Navarro

Volume 6, Issue 2, 2012

Page: [99 - 107] Pages: 9

DOI: 10.2174/187221412800604617

Price: $65

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.

Keywords: Brain, brain diseases, central nervous system, lafora disease, laforin, malin, neurodegenerative diseases, autosomal recessive, Lafora disease, glycogen synthase activity


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