Prion diseases
Conditions
Interventions
Gold Standard:For sporadic Creutzfeldt–Jakob disease (sCJD), cases that met the clinical diagnostic criteria for "probable sCJD" according to the World Health Organization (WHO) were included
For genetic prion diseases, patients with confirmed pathogenic PRNP mutations identified through whole-exome sequencing or Sanger sequencing were included.
Index test:Real-Time Quaking-Induced Conversion (prion-RT-QuIC) assay for the detection of pathogenic prion protein (PrP^Sc) in cerebrospinal fluid and skin biopsy samples
Sponsors
Xuanwu Hospital, Capital Medical University
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Inclusion criteria
Inclusion criteria: Inclusion criteria: (1) The patient presents with rapidly progressive dementia, accompanied by at least two of the following major clinical signs and symptoms: cerebellar dysfunction, psychiatric symptoms, myoclonus, visual disturbances, extrapyramidal signs, pyramidal signs, or akinetic mutism, with a disease course of less than one year; (2) The patient meets one or more of the following characteristic auxiliary diagnostic criteria for Creutzfeldt-Jakob disease (CJD):1) Brain MRI shows hyperintensity on DWI/FLAIR sequences in at least two cortical regions (frontal, temporal, parietal, or occipital) and/or in the basal ganglia (caudate nucleus/putamen);2) EEG shows periodic sharp wave complexes;3). Cerebrospinal fluid (CSF) is positive for 14-3-3 protein, accompanied by neurological symptoms, and the disease course is less than one year; Meeting either criterion (1) or (2) is sufficient for inclusion. (3) Age >=18 years; (4) The patient or their legal representative agrees to undergo lumbar puncture and postauricular skin biopsy; (5) Signed informed consent.
Exclusion criteria
Exclusion criteria: Exclusion criteria: (1) Patients with contraindications to MRI, such as patients with pacemakers, cardiac defibrillators, implanted electronic systems, vascular clips, mechanical heart valves, or cochlear implants; (2) Patients with contraindications to lumbar puncture or skin biopsy, such as coagulation disorders, localized infections, etc; (3) Inability to complete follow-up visits.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Diagnostic sensitivity;diagnostic specificity;Area under the ROC curve; | — |
Secondary
| Measure | Time frame |
|---|---|
| Positive predictive value;Negative predictive value;positive likelihood ratio;negative likelihood ratio; | — |
Countries
China
Contacts
Public ContactLiyong Wu
Xuanwu Hospital, Capital Medical University
Outcome results
None listed