Observational studyMovement disorders clinical practice2025
Elevated Plasma Neurofilament Light Chain Levels in Children with Infantile-Onset Ascending Hereditary Spastic Paralysis.
Observational study in Movement disorders clinical practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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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.
The trial behind it
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Who cites it
1 citing paper in PubMed.
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Authors and funding
13 authors.
Funding
Abstract
backgroundInfantile-onset ascending hereditary spastic paralysis (IAHSP), caused by bi-allelic variants in ALS2, is an ultra-rare, neurodegenerative disorder characterized by progressive ascending spasticity and weakness with bulbar dysfunction.
objectivesTo investigate baseline plasma neurofilament light chain (NfL) levels in children with IAHSP patients compared to age-matched controls.
methodsFive patients (age range: 6-11 years) with genetically confirmed IAHSP and 74 healthy controls were assessed. Plasma NfL was measured using a single-molecule array. Statistical analyses included non-parametric tests, age-matched comparisons, and effect size estimation.
resultsChildren with IAHSP had modestly but significantly elevated plasma NfL levels compared to controls (median: 17.5 vs. 4.78 pg/mL, p = 0.004). High NfL levels persisted across varying levels of clinical severity.
conclusionsPlasma NfL levels are elevated in IAHSP, suggesting axonal degeneration. These pilot findings highlight NfL as a potential marker for disease activity, warranting further investigation in larger cohorts and longitudinal studies.
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