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在ALS中遗传变异的临床轨迹:在PRECISION-ALS中进行的一项欧洲观察研究

Robert McFarlane¹, Sarah Opie-Martin², Alejandro Caravaca Puchades³

¹Academic Unit of Neurology, Trinity Biomedical Sciences Institute, School of Medicine, Trinity College Dublin, The University of Dublin, Dublin, Ireland.

Amyotrophic lateral sclerosis & frontotemporal degeneration

|May 6, 2025

概括

在C9orf72,SOD1,FUS和TARDBP的遗传变异显著影响欧洲的肌缩侧面硬化症 (ALS) 临床轨迹,导致早期发病和明显的疾病进展模式. 这些发现突出了对ALS的遗传影响,并表明了欧洲人口中潜在的创始人影响.

科学领域:

神经科学是一个神经科学.
遗传学遗传学是一个
临床神经学临床神经学

背景情况:

肌缩侧面硬化症 (ALS) 是一种进展性神经退行性疾病,临床表现各异.
遗传因素在一组ALS病例中起着至关重要的作用,影响疾病发病和进展.
了解特定基因变异的影响是ALS个性化医疗方法的关键.

研究的目的:

调查C9orf72,SOD1,FUS和TARDBP基因变异之间的关联以及欧洲各地ALS患者的临床轨迹.
确定与不同临床表型和ALS疾病进展模式相关的特定遗传特征.

主要方法:

作为精确性ALS倡议的一部分,分析了9个欧洲中心21820名ALS患者的数据.
对C9orf72,SOD1,FUS和TARDBP变异进行了基因检测,对9,887名患者进行了基因检测.
临床特征,包括发病年龄,发病地点和疾病进展 (King's 阶段) 在患有和没有发现变异的患者之间进行了比较.

主要成果:

病原性变异的流行率:C9orf72 (9.8%),SOD1 (2.9%),TARDBP (1.4%),以及FUS (0.8%). 病原性变异的流行率包括:C9orf72 (9.8%),SOD1 (2.9%),TARDBP (1.4%),以及FUS (0.8%).
与野生型人群相比,这些变异患者的发病年龄明显较早.
C9orf72变种与腹筋发作有关,而SOD1变种与脊柱发作有关;变种携带者也通过King的阶段表现出明显的进展.
在欧洲观察到SOD1和TARDBP变异的地理聚类证据.

结论:

在C9orf72,SOD1,FUS和TARDBP的遗传变异与ALS患者的早期发病和独特的临床轨迹有关.
这些ALS的遗传形式与零星ALS相比,在疾病发病和进展方面具有独特的模式.
观察到的疾病集群表明欧洲人群中特定的ALS遗传变异的潜在创始效应.

关键词:

遗传学遗传学是一个 c9orf7272 在线观看在 F F F 的情况下,这就是所谓的 sod1 sod1 .迟到的时间.美国,美国,美国.

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