Around 10% of all amyotrophic lateral sclerosis (ALS) cases are familial and around 3-5% are fused-in-sarcoma (FUS)-related in Europe. We report a 43-year-old patient with a pathogenic FUS mutation (c.1561C>G p.(Arg521Gly) who presented at our clinic with chorea and subsequently with progressive symptoms of classical ALS. As a result of progressive upper and lower motor neurone deterioration, chorea disappeared and death occurred 2.5 years after the onset of the first manifestations. This first description adds chorea as a possible pleiotropic clinical feature in FUS-related ALS. It further warrants to systematically ask and check for chorea in ALS patients and their relatives.

中文翻译：

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舞蹈症是肌萎缩性侧索硬化症中肉瘤融合突变的多效性临床特征。

在欧洲，所有肌萎缩性侧索硬化症（ALS）病例中约有10％是家族性的，约有3-5％与肉瘤融合（FUS）有关。我们报告了一名43岁的患者，其病原性FUS突变（c.1561C> G p。（Arg521Gly））在我们的诊所出现了舞蹈病，随后出现了典型ALS的进行性症状。首次出现后2.5年，神经元退化，舞蹈病消失并发生死亡，首次描述增加了舞蹈病是FUS相关性ALS中可能的多效性临床特征，进一步保证有系统地询问和检查ALS患者及其患者的舞蹈病亲戚们。