r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-7947-2024-29-4-27-35r-n-j-604Research ArticleИССЛЕДОВАНИЯ И КЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL RESEARCHES AND CASE REPORTSПотенциальные биомаркеры эффективности патогенети ческой терапии спинальной мышечной атрофии у взрослыхPotential biomarkers of the effectiveness of pathogenetic therapy of spinal muscular atrophy in adultshttps://orcid.org/0000-0003-2789-8431МуружеваЗ. М.MuruzhevaZ. M.

Санкт-Петербург 

Saint-Petersburg 

zamira.muruzheva@mail.ruhttps://orcid.org/0000-0002-1326-7383АбсалямоваМ. Т.AbsalyamovaM. T.

Санкт-Петербург 

Saint-Petersburg 

absalyamova.mt@edu.spbstu.ruhttps://orcid.org/0000-0003-0424-6545ТрактировД. С.TraktirovD. S.

Санкт-Петербург 

Saint-Petersburg 

ds.traktirov@gmail.comhttps://orcid.org/0000-0002-1082-0059КарпенкоМ. Н.KarpenkoM. N.

Санкт-Петербург 

Saint-Petersburg 

mnkarpenko@mail.ru«Институт экспериментальной медицины» ; Ленинградская областная клиническая больница ; Северо-Западный государственный медицинский университет имени И.И. МечниковаРоссияInstitute of Experimental Medicine ; Leningrad Regional Clinical Hospital ; North-Western State Medical University named after I.I. MechnikovRussian Federation«Институт экспериментальной медицины»РоссияInstitute of Experimental MedicineRussian Federation2024051120242942735Copyright © Муружева З.М., Абсалямова М.Т., Трактиров Д.С., Карпенко М.Н., 20242024Муружева З.М., Абсалямова М.Т., Трактиров Д.С., Карпенко М.Н.Muruzheva Z.M., Absalyamova M.T., Traktirov D.S., Karpenko M.N.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.r-n-j.com/jour/article/view/604

В статье систематизированы данные о прогностической значимости различных биомаркеров при определении эффективности патогенетической терапии у пациентов со спинальной мышечной атрофией. Приведено клиническое наблюдение, иллюстрирующее, что на фоне применения патогенетической терапии нусинерсеном снижение уровня тяжелых цепей нейрофиламентов в цереброспинальной жидкости у пациента со спинальной мышечной атрофией 3 типа коррелировало с улучшением двигательной функции, оцененной по стандартным функциональным шкалам.

The review summarizes and systematizes data on the prognostic significance of various biomarkers in determining the effectiveness of pathogenetic therapy for spinal muscular atrophy. The review includes a clinical case of a patient with type 3 spinal muscular atrophy. The case illustrates that a decrease in the level of heavy chains of neurofilaments in the cerebrospinal fluid of the patient during the use of pathogenetic therapy with nusinersen positively correlated with an improvement in motor function, assessed by standard functional scales.

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The authors declare that there are no conflicts of interest present.