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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,… Click to show full abstract
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.
Keywords:
neurofilament light;
fatal familial;
plasma neurofilament;
familial insomnia;
light chain
Journal Title: European Journal of Neurology
Year Published: 2022
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Journal Title: European Journal of Neurology
Year Published: 2022
Link to full text (if available)
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recommendations!