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J Clin Neurosci. 2019 Feb;60:124-127. doi: 10.1016/j.jocn.2018.09.031. Epub 2018 Oct 9.

Cerebrospinal fluid neurofilament light in suspected sporadic Creutzfeldt-Jakob disease.

Author information

1
Laboratory of Pharmacology, School of Health Sciences, Department of Pharmacy, Aristotle University of Thessaloniki, Thessaloniki, Greece. Electronic address: ekanata@bio.auth.gr.
2
Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland.
3
Department of Neurology, University Medical School, Göttingen, Germany.
4
Laboratory of Pharmacology, School of Health Sciences, Department of Pharmacy, Aristotle University of Thessaloniki, Thessaloniki, Greece.
5
Department of Genetics, Development, and Molecular Biology, School of Biology, Aristotle University, Thessaloniki, Greece.
6
Department of Neurology, University Medical School, Göttingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Göttingen, Germany.
7
Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), Institute Carlos III, Ministry of Health, L'Hospitalet de Llobregat, Spain; Bellvitge University Hospital-IDIBELL, Department of Pathology and Experimental Therapeutics, University of Barcelona, Hospitalet de Llobregat, Spain.
8
Department of Epidemiology, Helmholtz Centre for Infection Research, Braunschweig, Germany.
9
Department of Neurology, University Medical School, Göttingen, Germany; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), Institute Carlos III, Ministry of Health, L'Hospitalet de Llobregat, Spain; Bellvitge Biomedical Research Institute (IDBELL), L'Hospitalet de Llobregat, Spain. Electronic address: franc.llorens@gmail.com.

Abstract

Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common form of human prion disease. It is invariably fatal and displays a short clinical disease stage. The key event in sCJD is the propagation of a beta-sheet rich conformer of the physiological PrPC protein, known as PrPSc. Neuropathological disease characteristics include gliosis, neuronal loss and spongiform degeneration; disease clinical manifestations refer to mental and visual disabilities, cognitive impairment, gait or limb ataxia, myoclonus and mutism. Definite sCJD diagnosis requires post-mortem brain material histopathological examination. However, highly certain pre-mortem differential diagnosis is desired to exclude other treatable disorders and to reduce disease transmission risks. Detection and/or quantification of cerebrospinal fluid (CSF) biomarkers reflecting neuronal damage and PrPC misfolding in the diseased brain significantly enhance pre-mortem diagnosis. Previously established and newly identified biomarkers are used towards this direction. Increased CSF Neurofilament light chain (NFL) concentrations have been reported in several neurological disorders, including prion diseases. In the present study, we analyzed CSF NFL levels in two independent patient cohorts, consisting of highly suspected sCJD cases that were further classified as sCJD or non-CJD according to established diagnostic criteria. CSF NFL concentrations were increased in sCJD compared to non-CJD cases in both cohorts (area under the curve (with 95% confidence interval) equal to 0.89 (0.82 to 0.97) and 0.86 (0.77 to 0.96), respectively. CSF NFL was associated neither to age nor to sex but correlated with total-tau concentrations in both cohorts. Overall, our data provide independent validation of CSF NFL utility in sCJD differential diagnosis.

KEYWORDS:

Cerebrospinal fluid; Neurodegenerative dementias; Neurofilament light; Prion diseases; Sporadic Creutzfeldt-Jakob disease

PMID:
30309804
DOI:
10.1016/j.jocn.2018.09.031

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