A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS

IF 2.5 4区 医学 Q2 CLINICAL NEUROLOGY
P. Corcia, V. Danel, A. Lacour, S. Beltran, C. Andres, P. Couratier, H. Blasco, P. Vourc'h
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引用次数: 19

Abstract

Abstract Although amyotrophic lateral sclerosis (ALS) typically occurs around 60 years, numerous publications report an onset of ALS before the age of 25 years that define juvenile ALS (jALS). Over the last decade, growing literature mentioned jALS with an aggressive evolution which are mainly linked to the FUS gene. We report here the case of a 25-year-old woman with a bulbar onset ALS that progressed in less than 12 months to invasive ventilation due to respiratory failure; Genetic screening identified a new mutation in the FUS gene that lies within the last codon. After reading the literature, it might be legitimate to consider that jALS linked to FUS mutations represent a specific entity different from both classical jALS and adult ALS linked to FUS gene. This should encourage clinician to firstly screen the FUS gene in the presence of a sporadic ALS that occurs before the age of 25 and with an aggressive profile of evolution.
FUS(Y526C)C端氨基酸的一个新突变加强了FUS基因作为攻击性青少年ALS最常见的遗传因素的作用
摘要尽管肌萎缩侧索硬化症(ALS)通常发生在60岁左右,但许多出版物报道了25岁之前ALS的发病,定义了青少年ALS(jALS)。在过去的十年里,越来越多的文献提到jALS具有攻击性进化,这主要与FUS基因有关。我们在此报告了一例25岁的女性,患有延髓性肌萎缩侧索硬化症,由于呼吸衰竭,在不到12个月的时间内发展为有创通气;基因筛查发现FUS基因中位于最后一个密码子内的一个新突变。在阅读了文献后,可以合理地认为与FUS突变相关的jALS代表了一个不同于与FUS基因相关的经典jALS和成人ALS的特定实体。这应该鼓励临床医生首先在25岁之前出现偶发性ALS并具有攻击性进化特征的情况下筛选FUS基因。
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来源期刊
CiteScore
5.40
自引率
10.70%
发文量
64
期刊介绍: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration is an exciting new initiative. It represents a timely expansion of the journal Amyotrophic Lateral Sclerosis in response to the clinical, imaging pathological and genetic overlap between ALS and frontotemporal dementia. The expanded journal provides outstanding coverage of research in a wide range of issues related to motor neuron diseases, especially ALS (Lou Gehrig’s disease) and cognitive decline associated with frontotemporal degeneration. The journal also covers related disorders of the neuroaxis when relevant to these core conditions.
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