Plasma neurofilament light chain concentration in the inherited peripheral neuropathies

被引：193

作者：

Sandelius, Asa ^{[1
]}

Zetterberg, Henrik ^{[1
,2
,3
]}

Blennow, Kaj ^{[1
,2
]}

Adiutori, Rocco ^{[4
]}

Malaspina, Andrea ^{[4
]}

Laura, Matilde ^{[5
,6
]}

Reilly, Mary M. ^{[5
,6
]}

Rossor, Alexander M. ^{[5
,6
]}

机构：

[1] Univ Gothenburg, Inst Neurosci & Physiol, Dept Psychiat & Neurochem, Sahlgrenska Acad, Gothenburg, Sweden

[2] Sahlgrens Univ Hosp, Clin Neurochem Lab, Molndal, Sweden

[3] UCL Inst Neurol, Dept Mol Neurosci, London, England

[4] Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Trauma & Neurosci Ctr, London, England

[5] UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England

[6] Natl Hosp Neurol & Neurosurg, London, England

来源：

NEUROLOGY | 2018年 / 90卷 / 06期

基金：

英国惠康基金; 欧洲研究理事会; 英国医学研究理事会; 瑞典研究理事会;

关键词：

MARIE-TOOTH DISEASE; AMYOTROPHIC-LATERAL-SCLEROSIS; HEAVY-CHAIN; BIOMARKER; NEURODEGENERATION; PROGRESSION; PROTEIN;

D O I：

10.1212/WNL.0000000000004932

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

ObjectiveTo perform a cross-sectional study to determine whether plasma neurofilament light chain (NfL) concentration is elevated in patients with Charcot-Marie-Tooth disease (CMT) and if it correlates with disease severity.MethodsBlood samples were collected from 75 patients with CMT and 67 age-matched healthy controls over a 1-year period. Disease severity was measured using the Rasch modified CMT Examination and neuropathy scores. Plasma NfL concentration was measured using an in-house-developed Simoa assay.ResultsPlasma NfL concentration was significantly higher in patients with CMT (median 26.0 pg/mL) compared to healthy controls (median 14.6 pg/mL, p < 0.0001) and correlated with disease severity as measured using the Rasch modified CMT examination (r = 0.43, p < 0.0001) and neuropathy (r = 0.37, p = 0.044) scores. Concentrations were also significantly higher when subdividing patients by genetic subtype (CMT1A, SPTLC1, and GJB1) or into demyelinating or axonal forms compared to healthy controls.ConclusionThere are currently no validated blood biomarkers for peripheral neuropathy. The significantly raised plasma NfL concentration in patients with CMT and its correlation with disease severity suggest that plasma NfL holds promise as a biomarker of disease activity, not only for inherited neuropathies but for peripheral neuropathy in general.

引用

页码：E518 / E524

页数：7

共 24 条

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