[安杰尔曼综合征:当前的方法和未来的疗法]。

IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Medicina-buenos Aires Pub Date : 2024-09-01
Erick Sell, Jessica Heymans
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引用次数: 0

摘要

安杰尔曼综合征(Angelman Syndrome)是一种严重的神经发育障碍,继发于 15 号染色体母系等位基因 UBE3A 基因的中断。其主要表现为神经系统疾病,但需要多学科综合治疗。目前已有关于最佳临床治疗的共识指南。目前,反义寡核苷酸临床试验首次有望通过激活父系等位基因中的 UBE3A 基因来治疗该病,并显示出令人鼓舞的初步临床效果。通过病毒载体接种 UBE3A 基因已在动物模型中进行了测试,并正在进行未来的临床试验。
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[Angelman syndrome: current approach and the future of therapies].

Angelman syndrome is a severe neurodevelopmental disorder secondary to disruption of the UBE3A gene in the maternal allele of chromosome 15. Its manifestations are mainly neurological, but a multidisciplinary management is required for its treatment. There are consensus guidelines available for best clinical management. Current clinical trials with antisense oligonucleotides promise, for the first time, to treat the cause by activating the UBE3A gene in the paternal allele, showing encouraging preliminary clinical effects. Inoculation of UBE3A gene through a viral vector has been tested in animal models and is underway for future clinical trials.

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来源期刊
Medicina-buenos Aires
Medicina-buenos Aires 医学-医学:内科
CiteScore
1.30
自引率
12.50%
发文量
0
审稿时长
6-12 weeks
期刊介绍: Information not localized
期刊最新文献
[Angelman syndrome: current approach and the future of therapies]. [Autism: associated medical conditions]. [Contribution of the Ibero-American Academy of Neuropediatrics to the knowledge of self-limited epilepsy in infants]. [Epilepsy or functional neurological disorder. Diagnostic strategies]. [Epileptic syndromes in pediatrics. What's new?]
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