Department of Neurology and Neuroscience, Beaumont Hospital and Royal College of Surgeons in Ireland, Dublin 9, Ireland.
CNS Drugs. 2010 Jul;24(7):549-61. doi: 10.2165/11319250-000000000-00000.
Lafora disease is a rare, fatal, autosomal recessive, progressive myoclonic epilepsy. 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 condition is characterized by epilepsy, myoclonus and dementia. Diagnostic findings on MRI and neurophysiological testing are not definitive and biopsy or genetic studies may be required. Therapy in Lafora disease is currently limited to symptomatic management of the epilepsy, myoclonus and intercurrent complications. With a greater understanding of the pathophysiological processes involved, there is justified hope for future therapies.
拉佛拉病是一种罕见的致命性常染色体隐性进行性肌阵挛性癫痫。由于 laforin 或 malin 蛋白异常导致神经和其他组织中形成聚葡聚糖包涵体，也可以将其视为碳水化合物代谢紊乱。该病的特征是癫痫、肌阵挛和痴呆。MRI 和神经生理学检查的诊断结果并不明确，可能需要进行活检或基因研究。拉佛拉病的治疗目前仅限于癫痫、肌阵挛和并发并发症的对症治疗。随着对相关病理生理过程认识的加深，未来有望有更多的治疗方法。
