Jellinger Kurt A
Institute of Clinical Neurobiology, Alberichgasse 5/13, Vienna, A-1150, Austria.
J Neural Transm (Vienna). 2025 Jun 28. doi: 10.1007/s00702-025-02975-3.
Multiple sclerosis (MS) is an inflammatory demyelinating disease with highly variable clinical course and usual onset in younger age, caused by genetic and environmental factors. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that affects motor neurons in the brain and spinal cord, resulting in gradual loss of voluntary muscle and respiratory control. Both ALS and MS exhibit distinct underlying causes and disease mechanisms, despite some shared clinical effects. About 10% of ALS are linked to genetic factors, such as C9orf72, the remaining sporadic ones being potentially influenced by environmental, toxic and oxidative stress, while MS is an autoimmune disorder where the immune system leads to inflammation and attacks the myelin sheath, genetic predisposition and viral infections playing a role in its susceptibility. The co-occurrence of ALS and MS is extremely rare, with 46 cases being reported in the available literature from 1986 to 2024, while in the earlier literature, cases with coincidental muscular atrophy simulating ALS were described. In the overwhelming majority, ALS manifested between one and 41 years after the onset of MS; only in four cases was ALS present before detection of MS. The concurrence of MS and ALS can be explained by similarities in their pathogenesis related to neurodegeneration, inflammation, and/or genetic susceptibility. The role of rare genetic ALS forms in this comorbidity deserves further studies. The shared inflammatory component with a cascade of oxidative stress and other noxious mechanisms leads to progressive motor and bulbar or other symptoms that underscore the potential for cross-disease research to yield insights applicable to both conditions and their relations to immune-mediated disorders.
多发性硬化症(MS)是一种炎症性脱髓鞘疾病,临床病程高度可变,通常发病于较年轻的年龄段,由遗传和环境因素引起。肌萎缩侧索硬化症(ALS)是一种神经退行性疾病,会影响大脑和脊髓中的运动神经元,导致自主肌肉和呼吸控制逐渐丧失。尽管ALS和MS有一些共同的临床症状,但它们表现出不同的潜在病因和疾病机制。约10%的ALS与遗传因素有关,如C9orf72,其余散发性病例可能受环境、毒性和氧化应激影响,而MS是一种自身免疫性疾病,免疫系统会引发炎症并攻击髓鞘,遗传易感性和病毒感染在其易感性中起作用。ALS和MS同时出现极为罕见,1986年至2024年的现有文献中报告了46例,而在早期文献中,描述了伴有类似ALS的巧合性肌肉萎缩的病例。在绝大多数情况下,ALS在MS发病后的1至41年之间出现;只有4例在检测到MS之前就已出现ALS。MS和ALS的并发可以用它们在神经退行性变、炎症和/或遗传易感性方面发病机制的相似性来解释。罕见遗传形式的ALS在这种共病中的作用值得进一步研究。共同的炎症成分以及一系列氧化应激和其他有害机制会导致进行性运动和延髓或其他症状,这突出了跨疾病研究产生适用于这两种疾病及其与免疫介导疾病关系的见解的潜力。