Sporadic fatal insomnia (SFI): investigations
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Sporadic fatal insomnia (SFI): investigations. Neurofilament light protein (NfL): this is increased. Fully referenced neurology checklist.
Cerebrospinal fluid (CSF) analysis: features
- Neurofilament light protein (NfL): this is increased
- 14-3-3 protein and t-tau: these are normal
- Real-time quaking-induced conversion assay (RT-QuIC): this is positive in 60% of cases
Video polysomnography: features
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Molecular analysis: PRNP codon 129
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Electroencephalogram (EEG): features
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Imaging
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References
- Abu-Rumeileh S, Redaelli V, Baiardi S, et al. Sporadic fatal insomnia in Europe: phenotypic features and diagnostic challenges. Ann Neurol 2018; 84:347-360.
- Moody KM, Schonberger LB, Maddox RA, Zou WQ, Cracco L, Cali I. Sporadic fatal insomnia in a young woman: a diagnostic challenge: case report. BMC Neurol 2011; 11:136.
