Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS

Gavin McCluskey, Karen E. Morrison, Colette Donaghy, John McConville, Mark O. McCarron, Ferghal McVerry, William Duddy, Stephanie Duguez, Chiara Villa (Editor)

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)
24 Downloads (Pure)

Abstract

Neurofilament levels are elevated in many neurodegenerative diseases and have shown promise as diagnostic and prognostic biomarkers in Amyotrophic Lateral Sclerosis (ALS), the most common form of Motor Neuron Disease (MND). This study assesses serum neurofilament light (NFL) and neurofilament heavy (NFH) chain concentrations in patients with ALS, other variants of motor neuron disease such as Progressive Muscular Atrophy (PMA) and Primary Lateral Sclerosis (PLS), and a range of other neurological diseases. It aims to evaluate the use of NFL and NFH to differentiate these conditions and for the prognosis of MND disease progression. NFL and NFH levels were quantified using electrochemiluminescence immunoassays (ECLIA). Both were elevated in 47 patients with MND compared to 34 patients with other neurological diseases and 33 healthy controls. NFL was able to differentiate patients with MND from the other groups with a Receiver Operating Characteristic (ROC) curve area under the curve (AUC) of 0.90 (p < 0.001). NFL correlated with the rate of disease progression in MND (rho 0.758, p < 0.001) and with the ALS Functional Rating Scale (rho −0.335, p = 0.021). NFL levels were higher in patients with ALS compared to both PMA (p = 0.032) and PLS (p = 0.012) and were able to distinguish ALS from both PMA and PLS with a ROC curve AUC of 0.767 (p = 0.005). These findings support the use of serum NFL to help diagnose and differentiate types of MND, in addition to providing prognostic information to patients and their families.
Original languageEnglish
Article number1301
Pages (from-to)1-12
Number of pages13
JournalLife
Volume13
Issue number6
Early online date31 May 2023
DOIs
Publication statusPublished online - 31 May 2023

Bibliographical note

Funding Information:
G.M. was a recipient of the Association of British Neurologists (ABN) Clinical Research Fellowship funded by the ABN and Guarantors of Brain and an Irish Institute of Clinical Neuroscience research grant.

Publisher Copyright:
© 2023 by the authors.

Keywords

  • amyotrophic lateral sclerosis
  • primary lateral sclerosis
  • progressive muscular atrophy
  • neurofilament light
  • motor neuron disease
  • neurofilament heavy

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