Dataset Information

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 = 0.010) and decline during treatment. The median sNfL concentration of healthy controls is 4.73 pg/mL with no differences in sex (P = 0.486) but age (P < 0.001). In all children with SMA, sNfL levels correlate strongly with cNfL levels (r = 0.7, P < 0.001). In children with SMA and 2 SMN2 copies, sNfL values correlate with motor function (r = -0.6, P = 0.134), in contrast to older SMA children with >2 SMN2 copies (r = -0.1, P = 0.744).

Interpretation

Reference sNfL values of our large pediatric control cohort may be applied for future studies. Strong correlations between sNfL and cNfL together with motor function suggest that sNfL may be a suitable biomarker for disease activity in children with 2 SMN2 copies and those with >2 SMN2 copies within their initial stages during early childhood.

SUBMITTER: Nitz E

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

REPOSITORIES: biostudies-literature

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Publications

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

Nitz Elisa E Smitka Martin M Schallner Jens J Akgün Katja K Ziemssen Tjalf T von der Hagen Maja M Tüngler Victoria V

Annals of clinical and translational neurology 20210904 10

<h4>Objective</h4>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.<h4>Methods</h4>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 ...[more]

PMID: 34482646

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Dataset Information

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

Objective

Methods

Results

Interpretation

Publications

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

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