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...

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Main Authors: K. D. Popov, T. M. Alekseeva, V. D. Nazarov, A. I. Vlasenko, S. M. Malyshev
Format: Article
Language:Russian
Published: ABV-press 2023-10-01
Series:Нервно-мышечные болезни
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Online Access:https://nmb.abvpress.ru/jour/article/view/557
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author K. D. Popov
T. M. Alekseeva
V. D. Nazarov
A. I. Vlasenko
S. M. Malyshev
author_facet K. D. Popov
T. M. Alekseeva
V. D. Nazarov
A. I. Vlasenko
S. M. Malyshev
author_sort K. D. Popov
collection DOAJ
description 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.
format Article
id doaj-art-ee4d26c3f9ae4d4dbe026e39f3555988
institution Kabale University
issn 2222-8721
2413-0443
language Russian
publishDate 2023-10-01
publisher ABV-press
record_format Article
series Нервно-мышечные болезни
spelling doaj-art-ee4d26c3f9ae4d4dbe026e39f35559882025-08-20T03:38:15ZrusABV-pressНервно-мышечные болезни2222-87212413-04432023-10-01133333910.17650/2222-8721-2023-13-3-33-39355Molecular markers of disease severity and response to nusinersen therapy in 5q spinal muscular atrophy (literature review)K. D. Popov0T. M. Alekseeva1V. D. Nazarov2A. I. Vlasenko3S. M. Malyshev4V.A. Almazov National Medical Research Center, Ministry of Health of RussiaV.A. Almazov National Medical Research Center, Ministry of Health of RussiaI.P. Pavlov First Saint Petersburg State Medical UniversityV.A. Almazov National Medical Research Center, Ministry of Health of RussiaV.A. Almazov National Medical Research Center, Ministry of Health of RussiaCurrently, 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.https://nmb.abvpress.ru/jour/article/view/557spinal muscular atrophymarkers of treatment responsenusinersenneurofilamentstau-protein
spellingShingle K. D. Popov
T. M. Alekseeva
V. D. Nazarov
A. I. Vlasenko
S. M. Malyshev
Molecular markers of disease severity and response to nusinersen therapy in 5q spinal muscular atrophy (literature review)
Нервно-мышечные болезни
spinal muscular atrophy
markers of treatment response
nusinersen
neurofilaments
tau-protein
title Molecular markers of disease severity and response to nusinersen therapy in 5q spinal muscular atrophy (literature review)
title_full Molecular markers of disease severity and response to nusinersen therapy in 5q spinal muscular atrophy (literature review)
title_fullStr Molecular markers of disease severity and response to nusinersen therapy in 5q spinal muscular atrophy (literature review)
title_full_unstemmed Molecular markers of disease severity and response to nusinersen therapy in 5q spinal muscular atrophy (literature review)
title_short Molecular markers of disease severity and response to nusinersen therapy in 5q spinal muscular atrophy (literature review)
title_sort molecular markers of disease severity and response to nusinersen therapy in 5q spinal muscular atrophy literature review
topic spinal muscular atrophy
markers of treatment response
nusinersen
neurofilaments
tau-protein
url https://nmb.abvpress.ru/jour/article/view/557
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