Lafora disease (LD) is a life-threatening autosomal recessive and progressive neurodegenerative disorder that primarily affects adolescents, resulting in mortality within a decade of onset. The symptoms of LD include epileptic seizures, ataxia, dementia, and psychosis. The underlying pathology involves the presence of abnormal glycogen inclusions in neurons and other tissues, which may contribute to neurodegeneration. LD is caused by loss-of-function mutations in either the EPM2A gene or the NHLRC1 gene. These two genes, respectively, code for laforin phosphatase and malin ubiquitin ligase, and are thought to function, as a functional complex, in diverse cellular pathways. One of the major pathways affected in LD is glycogen metabolism; defects here lead to abnormally higher levels of glycogen and its hyperphosphorylation and aggregation, resulting in the formation of Lafora inclusion bodies. Currently, there is no effective therapy for LD. Studies, particularly from animal models, provide distinct insights into the fundamental mechanisms of diseases and potential avenues for therapeutic interventions. The purpose of this review is to present a comprehensive overview of our current knowledge regarding the disease, its genetics, the animal models that have been developed, and the therapeutic strategies that are being developed based on an understanding of the disease mechanism.

拉福拉病（LD）是一种危及生命的常染色体隐性和进行性神经退行性疾病，主要影响青少年，导致发病后十年内死亡。LD 的症状包括癫痫发作、共济失调、痴呆和精神病。潜在的病理学涉及神经元和其他组织中存在异常糖原内含物，这可能导致神经变性。LD 是由EPM2A基因或NHLRC1基因的功能丧失突变引起的。这两个基因分别编码拉福林磷酸酶和马林泛素连接酶，并且被认为作为功能复合物在不同的细胞途径中发挥作用。LD 受影响的主要途径之一是糖原代谢；这里的缺陷导致糖原水平异常升高及其过度磷酸化和聚集，从而导致拉福拉包涵体的形成。目前，LD还没有有效的治疗方法。研究，特别是动物模型的研究，为疾病的基本机制和治疗干预的潜在途径提供了独特的见解。本综述的目的是全面概述我们目前关于该疾病、其遗传学、已开发的动物模型以及基于对疾病机制的理解正在开发的治疗策略的知识。