■肌萎缩侧索硬化症(ALS)是一种致命的神经退行性疾病,与上下运动神经元变性和坏死有关,以进行性肌肉无力为特征,萎缩,和瘫痪。FUS突变相关的ALS已被分类为ALS6。我们报告了1例具有从头突变的ALS6病例,并回顾性调查了FUS突变病例的特征。
■我们报道了一名男性患者,该患者具有一个新的FUS基因杂合变异,并全面回顾了173例具有FUS突变的ALS病例。文献是从PubMedMEDLINE电子数据库(https://www。ncbi.nlm.nih.gov/pubmed)从2009年1月1日至2022年1月1日,使用“肌萎缩性侧索硬化症和Fus突变”或“Fus突变”作为关键词。
■我们报告了1例ALS6的新突变点(c.1225-1227delGGA),并全面回顾了173例具有FUS突变的ALS病例。虽然ALS6都有FUS突变,它仍然是一个高度异质的亚型。ALS6的平均发病年龄为35.2±1.3岁,远低于ALS的平均发病年龄(60岁)。青少年FUS突变具有疾病的侵袭性进展,从发病到死亡或气管造口术的平均时间为18.2±0.5个月。FUS基因具有早发的特点,更快的进步,和更短的生存,尤其是p.G504Wfs*12的缺失突变和p.P525L的错义突变。
■ALS6是一种高度异构的亚型。我们的研究可以让临床医生更好地了解非ALS的典型症状,表型,ALS6的病理生理学。
UNASSIGNED: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease associated with upper and lower motor neuron degeneration and necrosis, characterized by progressive muscle weakness, atrophy, and paralysis. The
FUS mutation-associated ALS has been classified as ALS6. We reported a
case of ALS6 with de novo mutation and investigated retrospectively the characteristics of cases with
FUS mutation.
UNASSIGNED: We reported a male patient with a new heterozygous variant of the FUS gene and comprehensively reviewed 173 ALS cases with FUS mutation. The literature was reviewed from the PubMed MEDLINE electronic database (https://www.ncbi.nlm.nih.gov/pubmed) using \"Amyotrophic Lateral Sclerosis and Fus mutation\" or \"Fus mutation\" as key words from 1 January 2009 to 1 January 2022.
UNASSIGNED: We report a
case of ALS6 with a new mutation point (c.1225-1227delGGA) and comprehensively review 173 ALS cases with
FUS mutation. Though ALS6 is all with FUS mutation, it is still a highly heterogenous subtype. The average onset age of ALS6 is 35.2 ± 1.3 years, which is much lower than the average onset age of ALS (60 years old). Juvenile FUS mutations have an aggressive progression of disease, with an average time from onset to death or tracheostomy of 18.2 ± 0.5 months. FUS gene has the characteristics of early onset, faster progress, and shorter survival, especially in deletion mutation p.G504Wfs *12 and missense mutation of p.P525L.
UNASSIGNED: ALS6 is a highly heterogenous subtype. Our study could allow clinicians to better understand the non-ALS typical symptoms, phenotypes, and pathophysiology of ALS6.