The aim of the presented study was to reveal the frequency of insomnia spells in E200K genetic Creutzfeldt-Jakob disease (gCJD) patients. Clinical records of 22 subjects diagnosed with E200K gCJD were retrospectively reviewed. The patients w/wo insomnia (n = 4, 18%/n = 18, 82%) did not differ in age, sex and the duration of the symptomatic phase. Analysis of the clinical features in the groups yielded differences in the clinical signs in the early phase of the disorder, proportion of homozygotes (Met/Met) at codon 129, MRI changes in the thalamus and the typical EEG abnormality. The study suggests that apart from traditional clinical features, the insomnia is not a rare early symptom in phenotype of E200K gCJD based on early thalamic involvement.
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http://dx.doi.org/10.1080/19336896.2019.1590938 | DOI Listing |
J Neurol
December 2024
The UK National CJD Research and Surveillance Unit, Centre for Clinical Brain Sciences, Chancellor's Building, University of Edinburgh, Edinburgh, EH16 4TG, UK.
Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive and fatal prion disease with significant public health implications. Survival is heterogenous, posing challenges for prognostication and care planning. We developed a survival model using diagnostic data from comprehensive UK sCJD surveillance.
View Article and Find Full Text PDFActa Neurol Belg
December 2024
Department of Cognitive Disorder, Beijing Tiantan Hospital, Capital Medical University, Fengtai District, South 4th Ring Road West 119, Beijing, 100070, China.
Objectives: Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative disorder with a fatal outcome. The present study investigated the difference on demographic, clinical and laboratory data between the patients with sporadic CJD (sCJD) and genetic CJD (gCJD).
Methods: Thirty-eight patients with CJD were enrolled in this study, including 28 patients with sCJD and 10 patients with gCJD.
Neurology
January 2025
From the Department of Neurology (Z.C., D.J., Y.K., J.Z., C.M., H.Y., J. Li, L. Wang, L. Wu), and Department of Radiology and Nuclear Medicine (S.B., S.Y., J. Lu), Xuanwu Hospital, Capital Medical University, Beijing, China.
Background And Objectives: Abnormal glymphatic system-related proteins have been identified in a small-scale pathologic study of patients with Creutzfeldt-Jakob disease (CJD). However, it remains unclear whether glymphatic dysfunction occurs in vivo in patients with CJD and whether this decline begins during the preclinical stage. This study aimed to investigate the relationship between glymphatic dysfunction and clinical characteristics in patients with CJD, as well as potential glymphatic impairment in preclinical CJD.
View Article and Find Full Text PDFPathology
November 2024
National CJD Research & Surveillance Unit, Centre for Clinical Brain Sciences, Chancellor's Building, University of Edinburgh, Edinburgh BioQuarter, Edinburgh, United Kingdom; Academic Department of Neuropathology, Centre for Clinical Brain Sciences, Chancellor's Building, University of Edinburgh, Edinburgh BioQuarter, Edinburgh, United Kingdom.
Human prion diseases are a rare group of transmissible neurodegenerative conditions which are classified according to their aetiology as sporadic, genetic or acquired forms. Creutzfeldt-Jakob disease (CJD) is the most common form of human prion disease, with the sporadic form accounting for ∼85% of all reported cases. While advances have been made in the development of clinical tools and biomarkers in the diagnosis of prion disease, allowing greater diagnostic certainty for surveillance purposes, definitive diagnosis requires neuropathological examination of the brain at postmortem.
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