Review of a series of cases of Creutzfeldt-Jakob disease in a tertiary care hospital

• Published in: Revista de neurologiá Vol. 77; no. 12; p. 299
• Main Authors: Villagrán-Sancho, D, Gómez-Fernández, F J, Luque-Ambrosiani, A C, Hernández-Chamorro, F J, Franco-Macías, E, Bernal-Sánchez Arjona, M
• Format: Journal Article
• Language: Spanish
• Published: Spain 16-12-2023
• Subjects: Creutzfeldt-Jakob Syndrome - diagnostic imaging; Female; Humans; Magnetic Resonance Imaging; Male; Prions - cerebrospinal fluid; Prions - genetics; Retrospective Studies; Sensitivity and Specificity; Tertiary Care Centers
• ISSN: 1576-6578; 1576-6578
• DOI: 10.33588/rn.7712.2023257

We analysed a series of patients with sporadic Creutzfeldt-Jakob disease in our setting.
The aim of this study is to describe the characteristics of our sample using the new diagnostic tools based on the most recently published criteria.
A descriptive, retrospective study was conducted using a digitalised hospital register. We identified 20 cases of the sporadic type, in the period 2012-2022: eight with a pathological diagnosis and 12 with high probability. The variables sex, age at onset, time of evolution, clinical phenotype, magnetic resonance imaging (MRI) findings, 14.3.3 protein, electroencephalogram (EEG), real-time quaking-induced prion protein conversion (RT-QuIC), autopsy, pathological phenotype and genetic diagnosis were recorded.
Of those affected, 50% were men and 50%, women, with an age at onset of 67 years (30-83) and a mean survival time of eight months (1-11 months). Cognitive impairment was the most frequent onset symptom, followed by gait ataxia. All MRI scans with long time-lapse sequences (FLAIR and DWI) were pathological, and the pattern of diffuse cortical and basal ganglia involvement was the most frequent. Altogether, 55% of the sample had an EEG with characteristic triphasic complexes. Sixty-five per cent were positive for 14.3.3 protein in cerebrospinal fluid. Four RT QuIC studies were carried out (in 2020) and all were positive. In 40% of them a confirmatory autopsy was performed, with the MM/MV1 pattern being the most frequent.
MRI with DWI sequences is a particularly sensitive test for the diagnosis of the disease, although its sensitivity decreases in the early stages. The high specificity and sensitivity of RT-QuIC, together with a characteristic clinical diagnosis and radiological pattern, are proposed as an alternative to the pathological definitive diagnosis.