Min Chu, Kexin Xie, Jing Zhang, Zhongyun Chen, Imad Ghorayeb, Sven Rupprecht, Anthony T Reder, Arturo Garay, Hiroyuki Honda, Masao Nagayama, Qi Shi, Shuqin Zhan, Haitian Nan, Jiatang Zhang, Hongzhi Guan, Li Cui, Yanjun Guo, Pedro Rosa-Neto, Serge Gauthier, Jiawei Wang, Xiaoping Dong, Liyong Wu
BACKGROUND: The understanding of fatal familial insomnia (FFI), a rare neurodegenerative autosomal dominant prion disease, has improved in recent years as more cases were reported. This work aimed to propose new diagnostic criteria for FFI with optimal sensitivity, specificity, and likelihood ratio. METHODS: An 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...
September 2022: Journal of Neurology