Plasma NfL and GFAP as biomarkers of spinal cord degeneration in adrenoleukodystrophy.

Abstract

OBJECTIVE:

To explore the potential of neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) as biomarkers of spinal cord degeneration in adrenoleukodystrophy, as objective treatment-outcome parameters are needed.

METHODS:

Plasma NfL and GFAP levels were measured in 45 male and 47 female ALD patients and compared to a reference cohort of 73 healthy controls. For male patients, cerebrospinal fluid (CSF) samples (n = 33) and 1-year (n = 39) and 2-year (n = 18) follow-up data were also collected. Severity of myelopathy was assessed with clinical parameters: Expanded Disability Status Scale (EDSS), Severity Scoring system for Progressive Myelopathy (SSPROM), and timed up-and-go.

RESULTS:

NfL and GFAP levels were higher in male (P < 0.001, effect size (partial ƞ2 ) NfL = 0.49, GFAP = 0.13) and female (P < 0.001, effect size NfL = 0.19, GFAP = 0.23) patients compared to controls; levels were higher in both symptomatic and asymptomatic patients. In male patients, NfL levels were associated with all three clinical parameters of severity of myelopathy (EDSS, SSPROM, and timed up-and go), while GFAP in male and NfL and GFAP in female patients were not. Changes in clinical parameters during follow-up did not correlate with (changes in) NfL or GFAP levels. Plasma and CSF NfL were strongly correlated (r = 0.60, P < 0.001), but plasma and CSF GFAP were not (r = 0.005, P = 0.98).

INTERPRETATION:

Our study illustrates the potential of plasma NfL as biomarker of spinal cord degeneration in adrenoleukodystrophy, which was superior to plasma GFAP in our cohort.

• Authors: Wouter J C van Ballegoij, Stephanie I W van de Stadt, Irene C Huffnagel, Stephan Kemp, Eline A J Willemse, Charlotte E Teunissen, Marc Engelen
• Journal: Annals of clinical and translational neurology (Ann Clin Transl Neurol) Vol. 7 Issue 11 Pg. 2127-2136 (11 2020) ISSN: 2328-9503 [Electronic] United States
• PMID: 33047897 (Publication Type: Journal Article, Observational Study, Research Support, Non-U.S. Gov't)
• Copyright: © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

Chemical References

• Biomarkers
• GFAP protein, human
• Glial Fibrillary Acidic Protein
• Neurofilament Proteins
• neurofilament protein L

Topics

• Adrenoleukodystrophy (complications, diagnosis, metabolism, pathology)
• Adult
• Aged
• Biomarkers (blood)
• Female
• Follow-Up Studies
• Glial Fibrillary Acidic Protein (blood)
• Humans
• Male
• Middle Aged
• Neurodegenerative Diseases (diagnosis, etiology, metabolism, pathology)
• Neurofilament Proteins (blood)
• Spinal Cord Diseases (diagnosis, etiology, metabolism, pathology)