Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children.

ABSTRACT:

Objective

The aim of this study was to evaluate neurofilament light chain as blood biomarker for disease activity in children and adolescents with different types of spinal muscular atrophy (SMA) and establish pediatric reference values.

Methods

We measured neurofilament light chain levels in serum (sNfL) and cerebral spinal fluid (cNfL) of 18 children with SMA and varying numbers of SMN2 copies receiving nusinersen by single-molecule array (SiMoA) assay and analyzed correlations with baseline characteristics and motor development. Additionally, we examined sNfL in 97 neurologically healthy children.

Results

Median sNfL levels in treatment-naïve SMA patients with 2 SMN2 copies are higher than in those with >2 SMN2 copies (P < 0.001) as well as age-matched controls (P 

SUBMITTER: Nitz E 

PROVIDER: S-EPMC8528467 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature