Gotaas Håvard Torvik, Skeie Geir Olve, Gilhus Nils Erik
Department of Clinical Medicine, University of Bergen, Bergen, Norway; Department of Oncology, Oslo University Hospital, Oslo, Norway.
Department of Clinical Medicine, University of Bergen, Bergen, Norway; Department of Neurology, Haukeland University Hospital, Bergen, Norway.
Neuromuscul Disord. 2016 Jun;26(6):337-41. doi: 10.1016/j.nmd.2016.03.003. Epub 2016 Mar 28.
The aim was to examine potential joint disease mechanisms for myasthenia gravis (MG) and amyotrophic lateral sclerosis (ALS) through the examination of long-term patient cohorts for comorbidity. Recent studies support early involvement of the neuromuscular junction in ALS patients with subsequent degeneration of motor neurons. Medical records at Haukeland University Hospital from 1987 to 2012 were examined for International Classification of Diseases diagnostic codes for MG and ALS. Sera were re-tested for antibodies to acetylcholine receptor, titin, MuSK and GM1. We report one patient with both MG and ALS, and another 3 patients with suggestive evidence of both conditions. This is far more than expected from prevalence and incidence figures in this area if the disorders were unrelated. Our data suggest that immunological mechanisms in the neuromuscular junction are relevant in ALS pathogenesis. Attention should be given to possible therapeutic targets in the neuromuscular junction and muscle in ALS patients.
目的是通过对长期患者队列的合并症检查,探究重症肌无力(MG)和肌萎缩侧索硬化症(ALS)潜在的关节疾病机制。最近的研究支持神经肌肉接头在ALS患者中早期受累,随后运动神经元发生变性。对1987年至2012年豪克兰大学医院的病历进行检查,以查找MG和ALS的国际疾病分类诊断代码。重新检测血清中抗乙酰胆碱受体、肌联蛋白、肌肉特异性激酶(MuSK)和GM1的抗体。我们报告了1例同时患有MG和ALS的患者,以及另外3例有两种疾病提示性证据的患者。如果这两种疾病不相关,那么这一情况远远超过该领域患病率和发病率的预期。我们的数据表明,神经肌肉接头中的免疫机制与ALS发病机制相关。应关注ALS患者神经肌肉接头和肌肉中可能的治疗靶点。