Neurofilaments as a biomarker of spinal muscular atrophy: review

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive, disabling neuromuscular disease characterized by the death of motor neurons in the spinal cord, giving rise in the development both of muscle weakness and, subsequently, flaccid tetraparesis, swallowing and breathing disorders. There are 4 types of SMA, depending on the age of manifestation, the most severe is type I (not counting type 0 — prenatal type). Modern diagnosis of SMA includes a molecular genetic study looking for mutations in the SMN1 gene and determining the copy number of the SMN2 gene. Instrumental and biochemical methods for evaluating the effectiveness of therapy for spinal muscular atrophy are currently under study. Neurofilament proteins have been investigated as potential biomarkers for several diseases characterized by axonal damage and degeneration. In clinical studies, there are isolated data on the use of blood neurofilaments as markers of SMA. This review considers the literature data of foreign authors and clinical studies of neurofilaments as perspective biomarkers of SMA, both heavy and light chains.