Mutations in Fused in Sarcoma (FUS or TLS) are the fourth most prevalent in Western European familial amyotrophic lateral sclerosis (ALS) populations and have been associated with causing both early and very late disease onset. FUS aggregation, DNA repair deficiency, and genomic instability are contributors to the pathophysiology of FUS‐ALS, but their clinical significance per se and their influence on the clinical variability have yet to be sufficiently investigated. The aim of this study was to analyze genotype–phenotype correlations and malignancy rates in a newly compiled FUS‐ALS cohort.

中文翻译：

---

遗传性肌萎缩性侧索硬化症中不同FUS突变的表型和恶性风险。

肉瘤融合症（FUS或TLS）的突变在西欧家族性肌萎缩性侧索硬化症（ALS）人群中排名第四，并且与导致早期和晚期疾病发作有关。FUS聚集，DNA修复缺陷和基因组不稳定是FUS-ALS病理生理的原因，但是它们的临床意义及其对临床变异性的影响尚待充分研究。这项研究的目的是分析新近编辑的FUS-ALS队列中的基因型-表型相关性和恶性率。