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

Feng, Shuo; Zhao, Xinjing; Zhou, Xueying; Xiang, Yu‐Tao; Yu, Xiaolin; Jiang, Wei; Deng, Yu; Zhou, Shiyue; Ma, Lin; Shan, Peiyan; Zhou, Guoyu

doi:10.3389/fneur.2021.700485

Cited by 10 publications

(8 citation statements)

References 61 publications

(112 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Ancillary tests can help clinicians differentiate CJD from other neurological diseases and ophthalmic disorders. Brian MRI is an essential tool in the diagnosis of CJD, and our study showed that the sensitivity of MRI was superior to those of CSF 14-3-3 and EEG, which is consistent with previous studies [ 23 , 24 , 25 , 26 ]. In our study, the median time from the disease’s onset to the presence of typical neuroimaging manifestations of CJD was 2 months.…”

Section: Discussionsupporting

confidence: 92%

Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease

Kong

Chen

Zhang

et al. 2023

Viruses

View full text Add to dashboard Cite

Background: The Heidenhain variant of Creutzfeldt–Jakob disease (HvCJD), as a rare phenotype of CJD, has been under-recognized. We aim to elucidate the clinical and genetic features of HvCJD and investigate the differences of clinical features between genetic and sporadic HvCJD to improve our understanding of this rare subtype. Method: HvCJD patients admitted to the Xuanwu Hospital from February 2012 to September 2022 were identified, and published reports on genetic HvCJD cases were also reviewed. The clinical and genetic features of HvCJD were summarized, and the clinical features between genetic and sporadic HvCJD were compared. Results: A total of 18 (7.9%) HvCJD patients were identified from 229 CJD cases. Blurred vision was the most common visual disturbance at the disease’s onset, and the median duration of isolated visual symptoms was 30.0 (14.8–40.0) days. DWI hyperintensities could appear in the early stage, which might help with early diagnosis. Combined with previous studies, nine genetic HvCJD cases were identified. The most common mutation was V210I (4/9), and all patients (9/9) had methionine homozygosity (MM) at codon 129. Only 25% of cases had a family history of the disease. Compared to sporadic HvCJD, genetic HvCJD cases were more likely to present with non-blurred vision visual symptoms at onset and develop cortical blindness during the progression of the disease. Conclusions: HvCJD not only could be sporadic, but also, it could be caused by different PRNP mutations. Sporadic HvCJD was more likely to present with blurred vision visual symptoms at onset, and genetic HvCJD was more likely to develop cortical blindness with the disease’s progression.

show abstract

Section: Discussionsupporting

confidence: 92%

Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease

Kong

Chen

Zhang

et al. 2023

Viruses

View full text Add to dashboard Cite

show abstract

“…Despite its rarity, CJD poses a significant Biomarkers such as increased amounts of 14-3-3 and Tau proteins in CSF have also been associated to CJD. 11 Furthermore, genetic testing on variations of the PRNP gene have been identified as potential indicators for prion diseases. For example, research on human prion diseases focused on the PRNP gene and its variations at codon 129 have emphasized its influence on vulnerability, medical progression and molecular subtypes of sporadic CJD in East and South Asian communities.…”

Section: Discussionmentioning

confidence: 99%

“…The disease has a distinctive clinical presentation, which includes rapidly developing dementia, coupled with additional neurological symptoms such as ataxia, myoclonus and visual abnormalities. 9 – 11 Electroencephalogram (EEG) and magnetic resonance imaging (MRI) are essential diagnostic tools, and the detection of 14-3-3 protein in the cerebrospinal fluid (CSF) can confirm the diagnosis. While CJD is rare, it has significant implications for public health due to its high mortality rate and the potential for iatrogenic spread.…”

Section: Introductionmentioning

confidence: 99%

Understanding Creutzfeldt-Jakob disease in Iran: a systematic review of case reports

Mohebbi,

Motamedaria,

Naderi

et al. 2024

J Int Med Res

View full text Add to dashboard Cite

Objective To systematically review the reported cases of Creutzfeldt-Jakob disease (CJD) in Iran. Methods A comprehensive literature review of CJD cases in Iran was undertaken using the PubMed®, Scopus® and Google Scholar databases. In addition, the Iranian database MagIran was searched for Persian language reports. Case selection used the following criteria: (i) patients of Iranian origin; (ii) publication in peer-reviewed journals or reputable medical databases; (iii) a definitive diagnosis of CJD based on established diagnostic criteria. Results Thirteen cases from twelve reports were included in this systematic review. The majority of the cases were female (11 of 13; 84.6%). The mean ± SD age of patients at hospital admission was 59.38 ± 7.44 years. The findings of the case review suggested that the prevalence of CJD in Iran is not fully established. CJD may be misdiagnosed alongside other clinical signs. The most prevalent early indications of the disease were psychiatric and neurological in nature. A considerable delay in diagnosis was observed in some cases and there was a shortage of brain autopsy records. Conclusion Efforts to improve diagnostic capabilities, promote awareness and establish monitoring systems are necessary for managing the challenges of providing an early diagnosis of CJD in Iran.

show abstract

“…This may be related to the fact that 98.5% of sCJD patients have the MM genotype at locus 129, which also implies a lack of MV1, MV2, VV1, and VV2 type sCJD cases in China, which constitute approximately 40–55% of the sCJD cases in the Caucasian population 4–7,9 . Furthermore, the overall survival of Chinese sCJD patients is comparable to or longer than that of Caucasian patients 24–27 . Since MM1‐type sCJD is associated with significantly shorter survival compared to other forms of sCJD, the predominance of MM2‐type sCJD with a median survival of 12–36 months may contribute to the comparable or longer survival of Chinese sCJD patients.…”

Section: Discussionmentioning

confidence: 99%

Toward an early clinical diagnosis of MM2‐type sporadic Creutzfeldt–Jakob disease

Chen

Kong

Zhang

et al. 2023

Ann Clin Transl Neurol

View full text Add to dashboard Cite

Objective: To assess the proportion of clinically diagnosed MM2-type sporadic Creutzfeldt-Jakob disease (sCJD) in a Chinese cohort, describe the clinical features of MM2-cortical (MM2C) and MM2-thalamic (MM2T) type sCJD to improve the early detection of MM2-type sCJD. Methods: A total of 209 patients with sCJD admitted to the Xuanwu Hospital between February 2012 and August 2022 were reviewed. The patients were classified into probable MM2C, MM2T-type sCJD, and other types of sCJD according to current clinical diagnostic criteria. Clinical and ancillary data were compared between the groups. Results: Fifty-one (24.4%) patients were clinically diagnosed with MM2-type sCJD, of which 44 were diagnosed with MM2C-type sCJD and 7 with MM2T-type sCJD. In the absence of RT-QuIC, 27 (61.3%) patients of MM2C-type sCJD did not meet the US CDC sCJD criteria for possible sCJD on admission, even though the mean period from onset to admission was 6.0 months. However, all of these patients had cortical hyperintensity on DWI. Compared to the other types of sCJD, MM2C-type sCJD was associated with slower disease progression and the absence of the typical clinical features of sCJD; the MM2T-type sCJD group had a higher proportion of males, earlier age of onset, longer duration of disease, and a higher incidence of bilateral thalamic hypometabolism/hypoperfusion. Interpretation: In the absence of multiple typical sCJD symptoms within 6 months, the presence of cortical hyperintensity on DWI should raise concerns for MM2C-type sCJD after excluding other etiologies. Bilateral thalamic hypometabolism/hypoperfusion may be more helpful in the clinical diagnosis of MM2T-type sCJD.

show abstract

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

Cited by 10 publications

References 61 publications

Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease

Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease

Understanding Creutzfeldt-Jakob disease in Iran: a systematic review of case reports

Toward an early clinical diagnosis of MM2‐type sporadic Creutzfeldt–Jakob disease

Contact Info

Product

Resources

About