5q脊髓性肌萎缩症患者病情严重程度及对nusinersen治疗反应的分子标记(文献回顾)

Q4 Medicine

Nervno-Myshechnye Bolezni Pub Date : 2023-10-30 DOI:10.17650/2222-8721-2023-13-3-33-39

K. D. Popov, T. M. Alekseeva, V. D. Nazarov, A. I. Vlasenko, S. M. Malyshev

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引用次数: 0

摘要

目前，世界上用于脊髓性肌萎缩5q病理治疗的药物有三种:nusinersen、risdiplam和onasemnogene abparvovek。与此同时，尚不清楚这种治疗在多大程度上能够改变疾病的自然史，开发评估治疗有效性的方法是积极的科学研究课题。本文综述了实验室方法评估不同年龄组脊髓性肌萎缩5q患者疾病严重程度和对nusinersen治疗反应的研究。

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Molecular markers of disease severity and response to nusinersen therapy in 5q spinal muscular atrophy (literature review)

Currently, there are three drugs in the world for the pathogenetic therapy of spinal muscular atrophy 5q: nusinersen, risdiplam and onasemnogene abeparvovek. At the same time, it is still unknown to what extent this treatment is able to change the natural history of the disease, and the development of methods for evaluating the effectiveness of treatment is the subject of active scientific research. This article is a review of studies of laboratory approaches for assessing the disease severity and the response to nusinersen therapy in patients with spinal muscular atrophy 5q in various age groups.

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来源期刊

Nervno-Myshechnye Bolezni Medicine-Neurology (clinical)

CiteScore

0.50

自引率

0.00%

发文量

审稿时长

8 weeks

期刊介绍： The principal objective of the "Neuromuscular Diseases" journal is publication of state-of-art information about scientific clinical studies, diagnostics, and treatment of neurological diseases. "Neuromuscular Diseases" is a peer-reviewed journal, and members of its editorial board are major professionals in Russia and the CIS countries that have deserved authority not only in our country but abroad as well. Besides, leading scientists of Europe and the USA regularly cooperate with the journal. The journal regularly publishes reviews of modern literature references, proprietary clinical observations, lectures, original articles, results of research protocols in various areas of neuromuscular pathology - clinical presentation, diagnostics, medication, surgical and non-drug therapies, modern trends in drug rehabilitation, and recent drug developments. Due to international cooperation, the journal contains the newest therapeutic and diagnostic approaches to monitoring of patients with neuromuscular pathology.