Validation of Revised International Creutzfeldt-Jakob Disease Surveillance Network Diagnostic Criteria for Sporadic Creutzfeldt-Jakob Disease

Abstract

IMPORTANCESporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly lethal disease. Rapid, accurate diagnosis is imperative for epidemiological surveillance and public health activities to exclude treatable differentials and facilitate supportive care. In 2017, the International CJD Surveillance Network diagnostic criteria were revised to incorporate cortical ribboning on magnetic resonance imaging and the real-time quaking-induced conversion (RT-QuIC) assay, developments that require multicenter evaluation. OBJECTIVE To evaluate the accuracy of revised diagnostic criteria through the retrospective diagnosis of autopsy-confirmed cases (referred to as in-life diagnosis).

Analysis of Clinical Features, Diagnostic Tests, and Biomarkers in Patients With Suspected Creutzfeldt-Jakob Disease, 2014-2021

“…By contrast, the diagnostic performance of CSF tests for CJD (RT-QuIC assays and T-tau level greater than 1149 pg/mL) and stereotyped signal anomalies on MRI was high, consistent with prior publications. 15,22 Indeed, the combination of RT-QuIC, T-tau level greater than 1149 pg/mL, and stereotyped MRI findings identified all but 3 patients (97%) with CJD in this series. No differences in sensitivity of clinical features or diagnostic test results were observed between patients with definite vs probable diagnoses, further validating the diagnostic criteria for probable CJD.…”

Biochemical and Neuropathological Findings in a Creutzfeldt–Jakob Disease Patient with the Rare Val180Ile-129Val Haplotype in the Prion Protein Gene

“…Likewise, the characteristic immunoblot PrP27–30 pattern in which the di-glycosylated band is missing and the unglycosylated band migration is slightly slower than type 2 PrP Sc [ 20 , 21 ] is likely related to the substitution of valine with isoleucine at codon 180, which might influence the PrP Sc PK-cleavage at the N-terminus. The absence of the di-glycosylated PrP Sc after PK treatment has been also observed in variably protease-sensitive prionopathy and in rare cases of atypical sCJD [ 21 , 22 , 23 , 24 ] and is attributable to a glycoform-selective PrP C to PrP Sc conversion process rather than to a primary absence of the precursor PrP C isoforms [ 21 ], as observed in patients with gCJD associated with the T183A mutation.…”

Diagnostic criteria for sporadic Creutzfeldt‐Jakob disease still missing psychiatric features

“…Although the revised criteria appear to work relatively well for sCJD, particularly increasing sensitivity versus the prior criteria, 4 the absence of any mention of psychiatric features suggests that cases such as that reported by Foster et al . will continue to occur.…”

“…In contrast, variant CJD is acknowledged as a 'neuropsychiatric disorder', and even some genetic forms (ie with a pathogenic mutation in the PRNP gene) are noted to be associated with neuropsychiatric disorder. 3 Although the revised criteria appear to work relatively well for sCJD, particularly increasing sensitivity versus the prior criteria, 4 the absence of any mention of psychiatric features suggests that cases such as that reported by…”