Creutzfeldt-Jakob disease in young people

Kulczycki, J; Jedrzejowska, H; Gajkowski, K; Tarnowska-Dziduszko, E; Łojkowska, Wanda

doi:10.1007/bf00143129

Cited by 18 publications

(7 citation statements)

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“…These advances have helped improve case ascertainment in sCJD, especially amongst younger individuals. Despite these developments, understanding of the clinical features, investigation results, and neuropathological findings of younger individuals with sCJD remain sparse, largely confined to descriptions from small case series [10][11][12][13] and isolated case reports [14][15][16][17]. An updated study is required to characterise this group of individuals, as these previous studies largely predated the widespread use of currently available highly sensitive investigations in CJD.…”

Section: Introductionmentioning

confidence: 99%

Sporadic Creutzfeldt–Jakob Disease in the young (50 and below): 10-year review of United Kingdom surveillance

Tam

Centola²,

Kurudzhu³

et al. 2022

J Neurol

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Introduction Sporadic Creutzfeldt–Jakob Disease (sCJD) is the commonest human prion disease, with a median age of onset of 68 years. We characterise the clinical, investigation, and neuropathological features in young individuals with sCJD using data from UK national CJD surveillance. Methods Referrals between 2011 and 2021 were examined, with definite (post-mortem confirmed) or probable sCJD cases included. Clinical features, MRI, EEG, CSF RT-QuIC, 14-3-3, PRNP sequencing and neuropathological findings were examined. We compared younger (≤ 50 years age of onset) with older individuals. Records of Non-sCJD referrals were also reviewed. Results 46 (4%) young individuals were identified (age at onset 25–50) from 1178 cases. 15 (33%) were autopsy confirmed. Psychiatric disturbance (37% vs 22%, p = 0.02) and headache (11% vs 3%, p = 0.01) at presentation, and longer disease duration (by 1.45 months, 95% CI 0.43–2.79, logrank p = 0.007) were commoner. CSF RT-QuIC showed lower sensitivity (82% vs 93%, p = 0.02). There was no difference in sensitivity of MR brain or CSF 14-3-3. There were no significant co-pathologies in autopsy-confirmed cases. For non-sCJD referrals, 41 cases were of other CJD subtypes, and 7 non-prion diagnoses. Conclusions Young-onset sCJD is more likely to present with neuropsychiatric symptoms and headache, longer disease duration, and lower sensitivity of RT-QuIC. These findings may be driven by the underlying molecular subtypes. Our results guide the evaluation of younger individuals presenting with rapidly progressive cognitive, neuropsychiatric, and motor decline, and emphasise the need for additional vigilance for atypical features by clinicians and CJD surveillance programmes worldwide.

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Section: Introductionmentioning

confidence: 99%

Sporadic Creutzfeldt–Jakob Disease in the young (50 and below): 10-year review of United Kingdom surveillance

Tam

Centola²,

Kurudzhu³

et al. 2022

J Neurol

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“…Five cases of sCJD in teenagers have been reported previously from the USA,3 France,4 Canada,5 Poland6 and Germany 7. The characteristics of all seven cases are summarised in table 1.…”

Section: Discussionmentioning

confidence: 99%

“…A young age at death may also occur in kuru, iatrogenic CJD and genetic forms of human prion disease 2. However, there have previously been five case reports of sCJD in teenagers, dying at or younger than age 20 years, from the USA,3 France,4 Canada,5 Poland6 and Germany 7. Therefore, young age cannot be regarded as diagnostic of vCJD.…”

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confidence: 99%

Sporadic Creutzfeldt Jakob disease in two adolescents

Murray

Ritchie

Bruce

et al. 2008

Journal of Neurology, Neurosurgery & Psychiatry

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“…Gerstmann-Straussler-Scheinker syndrome (GSS) [1,2] . The incidence of CJD is around 1 to 2 cases per million of population annually.…”

Section: Introductionmentioning

confidence: 99%

Analysis on Health-related Quality of Life of 180 Chinese Patients with Sporadic Creutzfeldt-Jakob Disease

Zhang¹,

Gao

Wang³

et al. 2020

Preprint

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Aims Sporadic Creutzfeldt-Jakob disease (sCJD) heavily affects the patient’s motor, cognitive, and psychological functions with 100% fatality rate. Yet, there are few studies focusing on the impact of sCJD on the health-related quality of life (HRQoL) of the patients with validated instrument. We examined physical and mental conditions of those sCJD patients in China for the first time. Methods With EQ-5D-3L instrument, a telephone-based cross-sectional study was conducted in order to obtain health statuses of 180 probable Chinese sCJD cases diagnosed in the National Center for CJD surveillance from January 2017 to July 2018. Besides, a visual analogue score (VAS) was performed to evaluate the health status of the sCJD patients from the family members and relatives who nursing the patients. Results Nearly all of 180 sCJD patients showed the apparent problems in the demission of mobility, usual activities and self-care. More than 1/3 of patients (38.33%) recalled the moderate and severe problems in the demission of pain/uncomfortable. 47.78% of them had the problems in the demission of anxiety/depression. The health utility of sCJD patients was low, with the median of 0.206. Meanwhile, the EQ-VAS score of those sCJD patients was also extremely low, with the median of 0. Conclusion Compared with the published data of several other diseases, the quality of life of Chinese sCJD patients was extremely poor as demonstrated by the results of the generic EQ-5D-3L. More social attentions need to be paid to reduce the healthy and economic burdens for sCJD patients and their families.

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Creutzfeldt-Jakob disease in young people

Cited by 18 publications

References 1 publication

Sporadic Creutzfeldt–Jakob Disease in the young (50 and below): 10-year review of United Kingdom surveillance

Sporadic Creutzfeldt–Jakob Disease in the young (50 and below): 10-year review of United Kingdom surveillance

Sporadic Creutzfeldt Jakob disease in two adolescents

Analysis on Health-related Quality of Life of 180 Chinese Patients with Sporadic Creutzfeldt-Jakob Disease

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