Sporadic fatal insomnia (SFI): investigations
Evidence-based neurology checklist on sporadic fatal insomnia (sfi): investigations: 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…
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
Molecular analysis: PRNP codon 129
Electroencephalogram (EEG): features
Imaging
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.
