Elevated Plasma Neurofilament Light Chain Levels in Children with Infantile-Onset Ascending Hereditary Spastic Paralysis.

IF 2.6 4区医学 Q2 CLINICAL NEUROLOGY

Movement Disorders Clinical Practice Pub Date : 2025-05-29 DOI:10.1002/mdc3.70157

Umar Zubair, Nicole Battaglia, Julian E Alecu, Amy Tam, Joshua Rong, Vicente Quiroz, Kathryn Yang, Hyo-Min Kim, Kaitlyn Warren, Rebekah Mannix, Stefania Della Vecchia, Filippo Maria Santorelli, Darius Ebrahimi-Fakhari

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引用次数: 0

Abstract

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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婴幼儿起病遗传性痉挛性麻痹患儿血浆神经丝轻链水平升高。

背景：婴幼儿起病的上升遗传性痉挛性麻痹（IAHSP）由ALS2的双等位基因变异引起，是一种极其罕见的神经退行性疾病，其特征是进行性上升性痉挛和无力伴球功能障碍。目的：研究IAHSP患儿血浆神经丝轻链（NfL）的基线水平，并与年龄匹配的对照组进行比较。方法：对5例遗传确诊的IAHSP患者（年龄6 ~ 11岁）和74例健康对照进行评估。使用单分子阵列测量血浆NfL。统计分析包括非参数检验、年龄匹配比较和效应大小估计。结果：与对照组相比，IAHSP患儿血浆NfL水平有中度但显著升高（中位数：17.5 vs. 4.78 pg/mL, p = 0.004）。高水平的NfL持续存在于不同的临床严重程度。结论：IAHSP患者血浆NfL水平升高，提示轴突变性。这些初步研究结果突出了NfL作为疾病活动的潜在标志物，值得在更大的队列和纵向研究中进一步调查。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Movement Disorders Clinical Practice CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

7.50%

发文量

218

期刊介绍： Movement Disorders Clinical Practice- is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g- genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms)