Chorea is a pleiotropic clinical feature of mutated fused-in-sarcoma in amyotrophic lateral sclerosis
Chorea is a pleiotropic clinical feature of mutated fused-in-sarcoma in amyotrophic lateral sclerosis
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DOI：
10.1080/21678421.2020.1733021
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发表时间：
2020-02-28
影响因子：
2.8
通讯作者：
Veldink, J. H.
中科院分区：
文献类型：
--
作者：
Flies, C. M.;Veldink, J. H.
在欧洲，大约10%的肌萎缩侧索硬化症（ALS）病例是家族性的，大约3-5%与肉瘤融合（FUS）有关。我们报告一个43岁的病人与致病性FUS突变（c.1561C>G p。（Arg 521 Gly），其在我们的诊所表现为舞蹈病，随后表现为典型ALS的进行性症状。由于进行性的上、下运动神经元退化，舞蹈病消失，死亡发生在第一次表现出现后2.5年。这第一个描述增加了舞蹈病作为一个可能的多效性临床特征在FUS相关的ALS。它进一步保证系统地询问和检查ALS患者及其亲属的舞蹈病。
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.