Work

Potential biomarkers of the effectiveness of pathogenetic therapy of spinal muscular atrophy in adults

Year: 2024

Type: article

Abstract: 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.

Source: Russian neurological Journal

DOI: 10.30629/2658-7947-2024-29-4-27-35

Authors: Z. M. Muruzheva, M. T. Absalyamova, D. S. Traktirov, M. N. Karpenko

Institutions: Institute of Experimental Medicine, North-Western State Medical University named after I.I. Mechnikov

Language: English

Topic: Neurogenetic and Muscular Disorders Research

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4404090310

FWCI:

Cites: 45

Cited by:

Related to: 10