Young-onset amyotrophic lateral sclerosis: historical and other observations
Young-onset amyotrophic lateral sclerosis: historical and other observations
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DOI：
10.1093/brain/aws144
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发表时间：
2012-09-01
期刊：
影响因子：
14.5
通讯作者：
Eisen, Andrew
中科院分区：
文献类型：
--
作者：
Turner, Martin R.;Barnwell, Jessica;Eisen, Andrew
尽管在基于人群的研究中，肌萎缩性侧索硬化症的平均年龄为65岁，但其初始症状发作的年龄范围很广。“年轻发病”肌萎缩性侧索硬化症通常指年龄小于45岁的患者，约占当代系列病例的10%。对1850年至1950年发表的肌萎缩性侧索硬化症病例的回顾显示，年轻发病的病例比例要高得多（约50%），并稳步下降到当代数字。这可能不能仅仅用预期寿命的延长来解释。虽然年轻发病的肌萎缩性侧索硬化症在表型上仍然存在丰富的差异，但在对一个大型患者数据库的分析中，发现球性发病的代表性明显不足，这意味着与症状发病灶性相关的年龄相关脆弱性。与症状出现相关的病理过程的启动时间进行了讨论，包括非常早期发展的潜在作用以及表观遗传和环境因素的相互作用。
There is a wide range of age at initial symptom onset in amyotrophic lateral sclerosis despite a mean age of 65 years in population-based studies. 'Young-onset' amyotrophic lateral sclerosis typically refers to patients younger than similar to 45 years and accounts for about 10% of cases in contemporary series. A review of published cases of amyotrophic lateral sclerosis from 1850 to 1950 revealed a far higher proportion of cases with young onset (>50%), with a steady decline to the contemporary figure. It is possible that this is not solely explained by increases in life expectancy. While there is still a rich variation in phenotypes among cases of young-onset amyotrophic lateral sclerosis, bulbar onset was found to be significantly under-represented in analysis of a large patient database, with implications for age-related vulnerabilities pertaining to focality of symptom onset. The timing of initiating pathological processes in relation to the emergence of symptoms is discussed, including the potential role of very early development and the interaction of epigenetic and environmental factors.