Sporadic Creutzfeldt-Jakob Disease: A Retrospective Analysis of 104 Cases

Abstract

Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is an extremely rare fatal and infectious neurodegenerative brain disorder characterized by rapidly progressive dementia, cerebellar ataxia, and visual disturbances. This article summarizes the retrospective analysis of 104 sCJD patients in the First Medical Center of Chinese PLA General Hospital from 2003 to 2019. Methods: A retrospective analysis of the medical records of the 104 patients diagnosed with sCJD was performed from the aspects of demographic data, clinical manifestations, laboratory examinations, cerebrospinal fluid analysis, electroencephalograms (EEGs), diffusionweighted imaging (DWI) scans, positron emission tomography (PET) scans, and prion protein gene mutations. Results: In the 104 sCJD patients, pathological evidence of a spongiform change was found in 11 patients, while the remaining 93 patients were probable sCJD. The 104 patients included 57 males and 47 females, with the age of onset ranging from 29 to 82 (mean: 58, median: 60) years. The time from disease onset to death ranged from 1 to 36 months. Most of the patients died 7-12 months after the onset of sCJD. In most patients, rapidly progressive dementia appeared as the initial symptom, followed by cerebellar ataxia, visual disturbances, and neurobehavioral disorders. Most patients' DWI images showed symmetric or asymmetric hyperintensity in the cortex. In terms of EEGs, 38.2% of the patients had periodic sharp wave complexes. The sensitivity of 14-3-3 protein detection was 34.1%. The brain PET scans of 50 patients with sCJD presented 96% sensitivity for the diagnosis of sCJD. Conclusions: This study indicated that sCJD occurred at an early age in patients in China. The sensitivity of 14-3-3 protein detection was significantly low, but brain PET was highly sensitive in the diagnosis of sCJD.

Epidemiological and Clinical Characteristics of Sporadic Creutzfeldt–Jakob Disease: A Retrospective Study in Eastern China

“…In this study, we found that there were more female than male sCJD patients, and the female-to-male ratio was 1.39. Two studies of Chinese patients were consistent with our findings, in which the number of females predominated (10,12), but two other studies had reported a higher proportion of males, where the female-to-male ratio was 0.82 and 0.79, respectively (8,14). Because of small sample size and various nationalities in China, there might be biases in those results.…”

“…Another two surveys in China have produced results essentially in agreement with ours at the median onset age, which was 64 years in our study (8,11). According to these reported Chinese studies, most of suspected patients were not tested for PRNP gene to rule out genetic Creutzfeldt-Jakob disease (8,9,11,14), which might affect the results and analysis of the study. Similarly, there were two patients younger than 30 years old in our study.…”

“…In our study, the mean survival time was 9.39 months, and 72.09% of the sCJD patients had a survival time <1 year. Similarly, other researches in China showed that mean survival time ranged from 6.1 to 11.6 months, and 1-year mortality was 68.50-74.00% (11,13,14). We also found that 14-3-3 protein and PSWCs acted as the favorable and unfavorable factor for over 1 year of survival time, respectively.…”

“…Besides, clinical features such as gender ratio and survival time are not consistent in several Chinese studies. Data on the prognosis of Chinese sCJD patients is even more deficient (8)(9)(10)(11)(12)(13)(14), and only one study had analyzed the factors affecting it (11). It is urgent to understand the current situation of sCJD in China.…”

Clinical characteristics of Creutzfeldt-Jakob disease in Mexico: A retrospective analysis

“…In a study conducted in the United Kingdom, cerebellar ataxia occurred as the only clinical manifestation in 5% of patients with CJD 25 . In contrast, in a study of Chinese patients with CJD, up to 51.9% of affected individuals presented cerebellar ataxia 26 , which coincides with our findings. Thus, based on our results, we also predict that the genetic and molecular characteristics of the PrP Sc underlying ataxic subtypes of sCJD (VV2 and MV2) may have a high incidence in Mexico.…”