Spuch Carlos, Ortolano Saida, Navarro Carmen
Department of Pathology and Neuropathology, University Hospital of Vigo (CHUVI), Hospital of Meixoeiro, Meixoeiro s/n, 36215, Vigo, Spain.
Recent Pat Endocr Metab Immune Drug Discov. 2012 May;6(2):99-107. doi: 10.2174/187221412800604617.
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.
拉福拉病（LD）是一种致命的常染色体隐性进行性肌阵挛癫痫。患者在青春期开始出现肌阵挛和强直阵挛发作、视幻觉、智力减退以及进行性神经功能恶化。已知与拉福拉病相关的两个基因是EPM2A和NHLRC1（EPM2B）。EPM2A基因编码拉福林，一种双特异性蛋白磷酸酶，而NHLRC1基因编码马啉，一种E3泛素连接酶。这两种蛋白质相互作用，并作为一个复合体被认为可调节糖原合成。由于拉福林或马啉蛋白异常导致神经和其他组织中形成多聚葡萄糖包涵体，它也可能被视为一种碳水化合物代谢紊乱疾病。该综述还概述了与拉福拉病相关的重要专利。
