In addition, FFI is quite rare, so the vast majority of neurologists have seen few or no cases. However, clinically early recognition and diagnosis of FFI remains difficult because of the incomplete penetrance, high clinical heterogeneity, no specificity of auxiliary examinations, and overlapping clinical profile with other prion diseases such as CJD and GSS. FFI is an autosomal dominant inherited disease, characterized by sleep-related, neuropsychiatric, and progressive sympathetic symptoms, with genetic analysis as a gold standard. Human prion diseases are a group of fatal progressive neurodegenerative disorders with various manifestations caused by the presence of scrapie-like prion protein, and encompass Creutzfeldt–Jakob disease (CJD), fatal familial insomnia (FFI), and Gerstmann–Sträussler–Scheinker syndrome (GSS). We propose new clinical diagnostic criteria for FFI, for a better refining of the clinical hallmarks of the disease that ultimately would help an early recognition of FFI and a better differentiation from other prion diseases. The new criteria for possible FFI had therefore reached a better sensitivity and specificity (92.2% and 96.1%, respectively), a PLR of 23.64 and a NLR of 0.08, whereas the probable FFI criteria showed a sensitivity of 90.6%, a specificity of 98.2%, with a PLR of 50.33 and a NLR of 0.095. The new criteria included more specific and/or common clinical features, two exclusion items, and summarized a precise and flexible diagnostic hierarchy. The 2018 criteria for possible FFI had a sensitivity of 90.6%, a specificity of 83.3%, with a positive likelihood ratio (PLR) of 5.43, and a negative likelihood ratio (NLR) of 0.11 and the probable FFI criteria had a sensitivity of 83.6%, specificity of 92.9%, with a PLR of 11.77, and a NLR of 0.18. (2) Diagnostic item selection according to statistical analysis and expert consensus. The new criteria were proposed based on the following steps with two-round expert consultation: (1) Validation of the 2018 FFI criteria. MethodsĪn international group of experts was established and 128 genetically confirmed FFI cases and 281 non-FFI prion disease controls are enrolled in the validation process. This work aimed to propose new diagnostic criteria for FFI with optimal sensitivity, specificity, and likelihood ratio. The understanding of fatal familial insomnia (FFI), a rare neurodegenerative autosomal dominant prion disease, has improved in recent years as more cases were reported.
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