The diagnostic significance of neurofilament heavy chains in cerebrospinal fluid in amyotrophic lateral sclerosis

Introduction. Early diagnosis of amyotrophic lateral sclerosis (ALS) is difficult because of the low sensitivity of clinical criteria at the early stages of the disease and the lack of reliable laboratory biomarkers. Neuron destruction leads to the release of excessively accumulated phosphorylated n...

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Published in:	Annaly kliničeskoj i èksperimentalʹnoj nevrologii (Online) Vol. 15; no. 1; pp. 43 - 50
Main Authors:	Anastasia V. Vladykina, Vladimir D. Nazarov, Vladimir S. Krasnov, Ekaterina I. Koroleva, Polina A. Fedorova, Anna N. Moshnikova, Aleksandra V. Mazing, Sergey V. Lapin, Vladimir L. Emanuel, Dmitriy I. Rudenko, Fatima R. Stuchevskaya, Sergey M. Zatakovenko, Tatyana A. Pavlova, Tatyana M. Alekseeva, Vitaliy V. Goldobin
Format:	Journal Article
Language:	English Russian
Published:	Research Center of Neurology 01-03-2021
Subjects:	amyotrophic lateral sclerosis biomarkers neurofilament heavy chains neurofilaments
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Summary:	Introduction. Early diagnosis of amyotrophic lateral sclerosis (ALS) is difficult because of the low sensitivity of clinical criteria at the early stages of the disease and the lack of reliable laboratory biomarkers. Neuron destruction leads to the release of excessively accumulated phosphorylated neurofilament heavy chains(pNFH) in the cerebrospinal fluid (CSF) and may potentially be used for early diagnosis of ALS. In addition, pNFH may have predictive significance. Aim. To investigate the clinical significance of elevated neurofilament heavy chain levels in the CSF in ALS. Materials and methods. The study included 33 patients with ALS diagnosed using the El Escorial criteria, 30 patients in the control group (post phlebectomy), as well as 28 patients in the comparison group: 16 patients with multiple sclerosis, 5 with autoimmune encephalitis, 1 with tick-borne encephalitis, 2 with primary lateral sclerosis, 1 with progressive muscle atrophy and 3 with other conditions (restless leg syndrome, compressive myelopathy and paraneoplastic cerebellar degeneration). All patients underwent a lumbar puncture, with pNFH levels measured using ELISA. Results. A statistically significant difference in pNFH concentration was found between ALS patients and patients in the comparison group (p 0.0001). At a threshold pNFH level, which was taken to be 0.785 ng/ml, the test sensitivity and specificity were 94% and 86%, respectively. Elevated pNFH levels in the CSF of patients with confirmed ALS were found in 94% of cases, compared with only 14% of patients in the comparison group. A statistically significant difference in pNFH concentration was found between the group with ALS and the control group (p 0.0001). A negative correlation was found between pNFH level in the CSF and disease duration (r = 0.5172; p = 0.0029). A positive correlation was also found between the speed of disease progression and pNFH concentration (r = 0.5480; p = 0.001). Conclusion. The results of this study demonstrate the high clinical significance of pNFH in the CSF in ALS.
ISSN:	2075-5473 2409-2533
DOI:	10.25692/ACEN.2021.1.5