TY  - JOUR
AU  - Hermann, Peter
AU  - Canaslan, Sezgi
AU  - Villar-Piqué, Anna
AU  - Bunck, Timothy
AU  - Goebel, Stefan
AU  - Llorens Torres, Francesc Josep
AU  - Schmitz, Matthias
AU  - Zerr, Inga
TI  - Plasma neurofilament light chain as a biomarker for fatal familial insomnia.
JO  - European journal of neurology
VL  - 29
IS  - 6
SN  - 1351-5101
CY  - Oxford
PB  - Blackwell Science
M1  - DZNE-2022-00195
SP  - 1841-1846
PY  - 2022
N1  - ISSN 1468-1331 not unique: **2 hits**. (CC BY-NC)
AB  - 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
KW  - Biomarkers
KW  - Case-Control Studies
KW  - Humans
KW  - Insomnia, Fatal Familial: diagnosis
KW  - Insomnia, Fatal Familial: genetics
KW  - Intermediate Filaments
KW  - Prion Diseases: genetics
KW  - biomarker (Other)
KW  - fatal familial insomnia (Other)
KW  - neurofilament light chain (Other)
KW  - plasma (Other)
KW  - prion disease (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:35212083
DO  - DOI:10.1111/ene.15302
UR  - https://pub.dzne.de/record/163435
ER  -