Couratier P, Corcia P, Lautrette G, Nicol M, Preux P-M, Marin B
Centre de compétence SLA-fédération Tours-Limoges, CHU de Limoges, 2, avenue Martin-Luther-King, 87000 Limoges, France; Inserm UMR1094, neuroépidémiologie tropicale, université de Limoges, 2, rue du Dr.-Marcland, 87025 Limoges cedex, France.
Centre de compétence SLA-fédération Tours-Limoges, CHU de Tours, 37044 Tours cedex 9, France.
Rev Neurol (Paris). 2016 Jan;172(1):37-45. doi: 10.1016/j.neurol.2015.11.002. Epub 2015 Dec 22.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of motor neurons, resulting in worsening weakness of voluntary muscles until death occurs from respiratory failure. The incidence of ALS in European populations is two to three people per year per 100,000 of the general population. In Europe, crude prevalences range from 1.1/100,000 population in Yugoslavia to 8.2/100,000 in the Faroe Islands. Major advances have been made in our understanding of the genetic causes of ALS, whereas the contribution of environmental factors has been more difficult to assess and large-scale studies have not yet revealed a replicable, definitive environmental risk factor. The only established risk factors to date are older age, male gender and a family history of ALS. Median survival time from onset to death is usually 3 years from the first appearance of symptoms. Older age and bulbar onset are consistently reported to have poorer outcomes. However, there are conflicting data regarding gender, diagnostic delay and El Escorial criteria. The rate of symptom progression has been revealed to be an independent prognostic factor. Psychosocial factors and impaired cognitive function are negatively related to ALS outcome, while nutritional status and respiratory function are also related to ALS prognosis. The effect of enteral nutrition on survival is still unclear, although noninvasive positive pressure ventilation (NIPPV) has been found to improve survival. These findings have relevant implications for the design of future trials.
肌萎缩侧索硬化症（ALS）是一种运动神经元的进行性神经退行性疾病，会导致随意肌逐渐无力，直至因呼吸衰竭而死亡。欧洲人群中ALS的发病率为每10万人每年2至3人。在欧洲，粗患病率从南斯拉夫的每10万人1.1例到法罗群岛的每10万人8.2例不等。我们对ALS遗传病因的认识取得了重大进展，而环境因素的作用则更难评估，大规模研究尚未揭示出可重复的、明确的环境风险因素。迄今为止，唯一确定的风险因素是年龄较大、男性以及有ALS家族史。从症状首次出现到死亡的中位生存时间通常为3年。一直有报告称，年龄较大和延髓起病的患者预后较差。然而，关于性别、诊断延迟和埃斯科里亚尔标准的数据存在矛盾。症状进展速度已被证明是一个独立的预后因素。心理社会因素和认知功能受损与ALS的预后呈负相关，而营养状况和呼吸功能也与ALS的预后有关。尽管已发现无创正压通气（NIPPV）可提高生存率，但肠内营养对生存的影响仍不明确。这些发现对未来试验的设计具有相关意义。
