Phenotypic differences of amyotrophic lateral sclerosis (ALS) in China and Germany
Phenotypic differences of amyotrophic lateral sclerosis (ALS) in China and Germany
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DOI：
10.1007/s00415-018-8735-9
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发表时间：
2018-04-01
影响因子：
6
通讯作者：
Ludolph, Albert C.
中科院分区：
文献类型：
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作者：
Rosenbohm, Angela;Liu, Mingsheng;Ludolph, Albert C.
本研究的目的是探讨来自德国和中国的两个队列的肌萎缩侧索硬化（ALS）表型差异。分别于2010年至2014年在德国西南部和2013年至2016年在北京的ALS诊所进行了基于登记的ALS研究。收集并比较了663例德国ALS患者和276例中国ALS患者的人口统计学和临床特征，德国ALS患者的平均发病年龄高于中国ALS患者[66.6岁（95%CI 65.7，67.5）vs. 53.2岁（95%CI 52.0，54.5）]。ALS患者的年龄分布在德国和中国分别在70-74岁和50-54岁左右达到峰值。德国患者的球结膜炎发病率高于中国患者（35.9% vs. 22.8%）。中国患者的诊断延迟高于德国研究样本（12个月对5个月）。认知缺陷在中国队列中更为明显。两组人群在吸烟习惯、糖尿病患病率和体重指数（BMI）方面存在差异，中国和德国ALS患者在发病年龄、性别分布、延髓形态、认知功能障碍、危险因素等方面存在明显差异，这可能与中国的社会经济状况、环境因素或遗传背景有关。观察到的表型差异需要进一步的流行病学研究环境和遗传风险因素。
The aim of this study is to explore phenotypical differences of amyotrophic lateral sclerosis (ALS) between two cohorts from Germany and China.Registry-based studies of ALS were conducted in South-West Germany from 2010 to 2014 and an ALS clinic in Beijing from 2013 to 2016, respectively. Demographic and clinical features of 663 German and 276 Chinese ALS patients were collected and compared.Mean age-at-onset was higher in German than in Chinese ALS patients [66.6 years (95% CI 65.7, 67.5) vs. 53.2 years (95% CI 52.0, 54.5)]. Age distribution of ALS patients peaked around 70-74 years in Germany and 50-54 years in China. Bulbar onset was more prevalent among German than among Chinese patients (35.9 vs. 22.8%). Diagnostic delay was higher in the Chinese than in the German study sample (12 vs. 5 months). Cognitive deficits were more pronounced in the Chinese cohort. Both cohorts differed in smoking habits, prevalence of diabetes and in body mass index (BMI).The apparent discrepancies between German and Chinese ALS patients (age at onset, gender distribution, bulbar forms, cognitive dysfunction, risk factors) reveal a quite different clinical phenotype in China, maybe due to socioeconomic status, environmental factors or genetic background. The observed differences in phenotype need to be pursued by further epidemiological studies on environmental and genetic risk factors.