Evidence map›Paper›PMID 41845532›Full record

ArticleAnnals of neurology2026

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy.

Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A Sampaio, Hooi-Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs and 4 more

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In one paragraph

Article in Annals of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Arlene D'SilvaDepartment of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.ORCID 0000-0002-6265-3053
Karen HerbertDepartment of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
Lakshmi BalajiDepartment of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
Jia Mei HeDepartment of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
Tejaswi KandulaDepartment of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
Hugo A SampaioDepartment of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
Hooi-Ling TeohDepartment of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
Esther TantsisDepartment of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
Jihee SohnBiogen, Cambridge, MA.
Nancy BriggsMark Wainwright Analytical Centre, University of New South Wales, Sydney, New South Wales, Australia.
Nickson NingMark Wainwright Analytical Centre, University of New South Wales, Sydney, New South Wales, Australia.
Matthew C KiernanNeuroScience Research Australia, University of New South Wales, Sydney, New South Wales, Australia.
Didu S KariyawasamDepartment of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.ORCID 0000-0002-4176-4010
Michelle A FarrarDepartment of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.ORCID 0000-0002-4472-0902

Funding

SCHN Foundation, Brain Foundation grant, National Health and Medical Research Council 1194940SCHN Foundation, Brain Foundation grant, National Health and Medical Research Council 2026317
6 · The paper itself

Abstract

objectiveNewborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking. This study evaluated neurofilament light chain (NfL) levels to provide insights into disease activity and outcomes in newborns and children with SMA.

methodsThis study correlated pretreatment NfL levels in the serum and cerebrospinal fluid (CSF) in a cross-sectional cohort of individuals with SMA against clinical, neurophysiological, molecular genetic variables, and treatment characteristics. Longitudinal NfL levels were evaluated in individuals that did not immediately commence treatment (governed by Australian reimbursement policies) and in those treated with nusinersen monotherapy.

resultsParticipants included 45 individuals with SMA (age range = 4 days to 42 years). Pretreatment serum NfL (sNfL) in 2 SMN2 copy neonates were significantly higher (2 SMN2, mean[SE] 680.9 [163.7]; ≥ 3 SMN2 146.9 [59.8] pg/ml, p = 0.01), correlating with increasing post-natal age (2 SMN2 r[12] = 0.75, p = 0.005). Combining sNfL and compound muscle action potential (CMAP) with pretreatment CHOP-INTEND in a regression model provided a stronger prediction of motor outcomes for neonates at 2 years (p = 0.02). Pretreatment sNfL in infants with ≥3 SMN2 copies who did not initiate immediate treatment increased despite motor function remaining stable.

interpretationThere is a malignant disease course with active denervation in children with 2 SMN2 copies within the neonatal period. sNfL gives early insights into underlying pathophysiology prior to a clinical phenotype and may expedite access to the initiation of treatment. ANN NEUROL 2026;100:109-122.

Indexed as

Muscular Atrophy, SpinalNeurofilament ProteinsAdolescentAdultBiomarkersChildChild, PreschoolCohort StudiesCross-Sectional StudiesFemaleHumansInfantInfant, NewbornMaleNeonatal ScreeningOligonucleotidesBiomarkersneurofilament protein LNeurofilament ProteinsnusinersenOligonucleotidesSMN2 protein, humanSurvival of Motor Neuron 2 Protein

Identifiers

PMID41845532
PMCPMC13327556

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.