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Article

Plasma neurofilament light chain as a biomarker for fatal familial insomnia

25 Feb 2022

Abstract excerpt

BACKGROUND AND PURPOSE: 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,...

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PMID: 35212083
DOI: 10.1111/ene.15302

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