Elevated Plasma Neurofilament Light Chain Levels in Children with Infantile-Onset Ascending Hereditary Spastic
Umar Zubair1, Nicole Battaglia1, Julian E Alecu1
1Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Background:
Infantile-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.
Objectives:
To investigate baseline plasma neurofilament light chain (NfL) levels in children with IAHSP patients compared to age-matched controls.
Methods:
Five 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.
Results:
Children 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.
Conclusions:
Plasma 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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