Proposal of new diagnostic criteria for fatal familial insomnia.

ABSTRACT:

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. The new criteria were proposed based on the following steps with two-round expert consultation: (1) Validation of the 2018 FFI criteria. (2) Diagnostic item selection according to statistical analysis and expert consensus. (3) Validation of the new criteria.

Results

The 2018 criteria for possible FFI

SUBMITTER: Chu M 

PROVIDER: S-EPMC9363306 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature