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000163435 041__ $$aEnglish
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000163435 1001_ $$0P:(DE-2719)2812183$$aHermann, Peter$$b0$$udzne
000163435 245__ $$aPlasma neurofilament light chain as a biomarker for fatal familial insomnia.
000163435 260__ $$aOxford$$bBlackwell Science$$c2022
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000163435 520__ $$aFatal 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.
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000163435 650_7 $$2Other$$abiomarker
000163435 650_7 $$2Other$$afatal familial insomnia
000163435 650_7 $$2Other$$aneurofilament light chain
000163435 650_7 $$2Other$$aplasma
000163435 650_7 $$2Other$$aprion disease
000163435 650_2 $$2MeSH$$aBiomarkers
000163435 650_2 $$2MeSH$$aCase-Control Studies
000163435 650_2 $$2MeSH$$aHumans
000163435 650_2 $$2MeSH$$aInsomnia, Fatal Familial: diagnosis
000163435 650_2 $$2MeSH$$aInsomnia, Fatal Familial: genetics
000163435 650_2 $$2MeSH$$aIntermediate Filaments
000163435 650_2 $$2MeSH$$aPrion Diseases: genetics
000163435 7001_ $$0P:(DE-2719)9001944$$aCanaslan, Sezgi$$b1$$udzne
000163435 7001_ $$0P:(DE-2719)9000327$$aVillar-Piqué, Anna$$b2$$udzne
000163435 7001_ $$0P:(DE-HGF)0$$aBunck, Timothy$$b3
000163435 7001_ $$0P:(DE-2719)9001986$$aGoebel, Stefan$$b4$$udzne
000163435 7001_ $$0P:(DE-2719)2811280$$aLlorens Torres, Francesc Josep$$b5$$udzne
000163435 7001_ $$0P:(DE-2719)9000287$$aSchmitz, Matthias$$b6$$udzne
000163435 7001_ $$0P:(DE-2719)2000058$$aZerr, Inga$$b7$$eLast author$$udzne
000163435 77318 $$2Crossref$$3journal-article$$a10.1111/ene.15302$$bWiley$$d2022-03-07$$n6$$p1841-1846$$tEuropean Journal of Neurology$$v29$$x1351-5101$$y2022
000163435 773__ $$0PERI:(DE-600)2020241-6$$a10.1111/ene.15302$$gp. ene.15302$$n6$$p1841-1846$$tEuropean journal of neurology$$v29$$x1351-5101$$y2022
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