Journal Article

DZNE-2022-00195

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Plasma neurofilament light chain as a biomarker for fatal familial insomnia.

Hermann, P.Extern* ; Canaslan, S.Extern* ; Villar-Piqué, A.Extern* ; Bunck, T. ; Goebel, S.Extern* ; Llorens Torres, F. J.Extern* ; Schmitz, M.Extern* ; Zerr, I. (Last author)DZNE*

2022
Blackwell Science Oxford

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Please use a persistent id in citations: doi:10.1111/ene.15302

Abstract: Fatal familial insomnia is a rare hereditary prion disease associated with the D178N-129M PRNP mutation. Early diagnosis is difficult, because the clinical syndrome may overlap with affective disorders. In addition, most known cerebrospinal fluid biomarkers for prion diseases and magnetic resonance imaging do not show a good diagnostic accuracy for fatal familial insomnia. In this context, data on plasma biomarkers are scarce.We analyzed levels of neurofilament light chain, glial fibrillary acidic protein, chitinase-3-like protein 1, calcium-binding protein B, and total tau protein in six serial plasma samples from a patient with fatal familial insomnia. Subsequently, plasma neurofilament light chain was analyzed in n = 25 patients and n = 19 controls. The diagnostic accuracy and associations with disease stage and duration were explored.Among all biomarker candidates in the case study, only neurofilament light chain levels showed a constant evolution and increased over time. They discriminated fatal familial insomnia from controls with an area under the curve of 0.992 (95% confidence interval [CI] = 0.974-1) in the case-control study. Higher concentrations were associated with methionine homozygosity at codon 129 PRNP (p = 0.006), shorter total disease duration (rho = -0.467, p = 0.019, 95% CI = -0.790 to -0.015), and shorter time from sampling to death (rho = -0.467, p = 0.019, 95% CI = -0.773 to -0.019).Plasma neurofilament light chain may be a valuable minimally invasive diagnostic biomarker for fatal familial insomnia after clinical onset. Most important, stage-related increase and association with disease duration indicate potential as a prognostic marker and as a surrogate marker in clinical trials.

Keyword(s): Biomarkers (MeSH) ; Case-Control Studies (MeSH) ; Humans (MeSH) ; Insomnia, Fatal Familial: diagnosis (MeSH) ; Insomnia, Fatal Familial: genetics (MeSH) ; Intermediate Filaments (MeSH) ; Prion Diseases: genetics (MeSH) ; biomarker ; fatal familial insomnia ; neurofilament light chain ; plasma ; prion disease

Note: ISSN 1468-1331 not unique: **2 hits**. (CC BY-NC)

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Contributing Institute(s):

1. Translational Studies and Biomarkers (AG Zerr)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2022

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Database coverage:
; ; ; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Ebsco Academic Search ; IF >= 5 ; JCR ; SCOPUS ; Web of Science Core Collection

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