Abstract
INTRODUCTION
People with neurodegenerative disorders (ND) frequently face diagnostic delay and misdiagnosis. We investigated blood and cerebrospinal fluid (CSF) neurofilament light chain (NfL) to distinguish ND from primary psychiatric disorders (PPD), a common challenge in clinical settings.
METHODS
Plasma and CSF NfL levels were measured and compared between groups, adjusting for age, sex, and weight.
RESULTS
A total of 337 participants were included: 136 ND, 77 PPD, and 124 Controls. Plasma NfL was 2.5-fold elevated in ND compared to PPD and had strong diagnostic performance (area under the curve, [AUC]: 0.86, 81%/85% specificity/sensitivity) that was comparable to CSF NfL (2-fold elevated, AUC: 0.89, 95%/71% specificity/sensitivity). Diagnostic performance was especially strong in younger people (40– < 60 years). Additional findings were cutoffs optimized for sensitivity and specificity, and issues important for future clinical translation.
CONCLUSIONS
This study adds important evidence for a simple blood-based biomarker to assist as a screening test for neurodegeneration and distinction from PPD, in clinical settings.
Highlights
NfL levels were significantly higher in ND versus PPD.
Plasma NfL showed strong diagnostic performance, comparable to CSF NfL, to distinguish ND from PPD.
Diagnostic performance was higher in younger people, where diagnostic challenges are greater.
Further research is needed on analytical and reference range factors, for clinical translation.
These findings support a simple screening blood test for neurodegeneration.
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This post is Copyright: Dhamidhu Eratne,
Matthew J. Y. Kang,
Courtney Lewis,
Christa Dang,
Charles B. Malpas,
Michael Keem,
Jasleen Grewal,
Vladimir Marinov,
Amy Coe,
Cath Kaylor‐Hughes,
Thomas Borchard,
Chhoa Keng‐Hong,
Alexandra Waxmann,
Burcu Saglam,
Tomas Kalincik,
Richard Kanaan,
Wendy Kelso,
Andrew Evans,
Sarah Farrand,
Samantha Loi,
Mark Walterfang,
Christiane Stehmann,
Qiao‐Xin Li,
Steven Collins,
Colin L. Masters,
Alexander F. Santillo,
Henrik Zetterberg,
Kaj Blennow,
Samuel F. Berkovic,
Dennis Velakoulis,
The MiND Study Group | October 6, 2024