Desdentado L, Espert R, Sanz P, Tirapu-Ustarroz J
Hospital Clinico Universitario de Valencia, 46010 Valencia, Espana.
Universidad de Valencia, 46071 Valencia, Espana.
Rev Neurol. 2019 Jan 16;68(2):66-74.
Lafora disease is autosomal recessive progressive myoclonus epilepsy with late childhood-to teenage-onset caused by loss-of-function mutations in either EPM2A or EPM2B genes encoding laforin or malin, respectively.
The main symptoms of Lafora disease, which worsen progressively, are: myoclonus, occipital seizures, generalized tonic-clonic seizures, cognitive decline, neuropsychiatric syptoms and ataxia with a fatal outcome. Pathologically, Lafora disease is characterized by the presence of polyglucosans deposits (named Lafora bodies), in the brain, liver, muscle and sweat glands. Diagnosis of Lafora disease is made through clinical, electrophysiological, histological and genetic findings. Currently, there is no treatment to cure or prevent the development of the disease. Traditionally, antiepileptic drugs are used for the management of myoclonus and seizures. However, patients become drug-resistant after the initial stage.
Lafora disease is a rare pathology that has serious consequences for patients and their caregivers despite its low prevalence. Therefore, continuing research in order to clarify the underlying mechanisms and hopefully developing new palliative and curative treatments for the disease is necessary.
拉福拉病是一种常染色体隐性进行性肌阵挛癫痫，发病于儿童晚期至青少年期，分别由编码拉福林或malin的EPM2A或EPM2B基因功能丧失性突变引起。
拉福拉病的主要症状会逐渐恶化，包括：肌阵挛、枕叶癫痫发作、全身强直阵挛发作、认知衰退、神经精神症状和共济失调，最终导致死亡。病理上，拉福拉病的特征是在脑、肝、肌肉和汗腺中存在多聚葡萄糖沉积（称为拉福拉小体）。拉福拉病的诊断通过临床、电生理、组织学和遗传学检查结果来进行。目前，尚无治愈或预防该病发展的治疗方法。传统上，抗癫痫药物用于治疗肌阵挛和癫痫发作。然而，患者在初始阶段后会产生耐药性。
拉福拉病是一种罕见的病症，尽管其发病率较低，但对患者及其护理人员会产生严重后果。因此，有必要持续开展研究以阐明其潜在机制，并有望开发出针对该病的新的姑息治疗和治愈性治疗方法。
