%0 Journal Article
%A Hermann, Peter
%A Canaslan, Sezgi
%A Villar-Piqué, Anna
%A Bunck, Timothy
%A Goebel, Stefan
%A Llorens Torres, Francesc Josep
%A Schmitz, Matthias
%A Zerr, Inga
%T Plasma neurofilament light chain as a biomarker for fatal familial insomnia.
%J European journal of neurology
%V 29
%N 6
%@ 1351-5101
%C Oxford
%I Blackwell Science
%M DZNE-2022-00195
%P 1841-1846
%D 2022
%Z ISSN 1468-1331 not unique: **2 hits**. (CC BY-NC)
%X 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
%K Biomarkers
%K Case-Control Studies
%K Humans
%K Insomnia, Fatal Familial: diagnosis
%K Insomnia, Fatal Familial: genetics
%K Intermediate Filaments
%K Prion Diseases: genetics
%K biomarker (Other)
%K fatal familial insomnia (Other)
%K neurofilament light chain (Other)
%K plasma (Other)
%K prion disease (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:35212083
%R 10.1111/ene.15302
%U https://pub.dzne.de/record/163435