Serum Neurofilament Light Chain: A Marker of Nervous System Damage in Myopathies.

ABSTRACT: Purpose: Neurofilament light chain in serum (sNfL) has been suggested as a biomarker for the assessment of neuroaxonal damage. Since NfL are not expressed in muscle, elevated sNfL in patients with primary myopathies suggest additional nervous system involvement. To verify this hypothesis, we measured sNfL in a series of patients with myopathies. Methods: sNfL were determined in 62 patients with molecular proven primary myopathies in whom some nervous system involvement may be predicted: myotonic dystrophy type I and II (DM I, II) and mitochondrial disease. In addition, sNfL were measured in 8 patients with facioscapulohumeral muscular dystrophy (FSHD) and in a disease control group caused by genetic defects exclusively expressed in muscle. Results: sNfL values were sig

SUBMITTER: Saak A 

PROVIDER: S-EPMC8718922 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature