Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F20%3A10418861" target="_blank" >RIV/00216208:11110/20:10418861 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11120/20:43920353 RIV/00064173:_____/20:N0000127 RIV/00064190:_____/20:N0000024 RIV/00064165:_____/20:10418861
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=MNvGZ7kO-H" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=MNvGZ7kO-H</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3389/fneur.2020.596108" target="_blank" >10.3389/fneur.2020.596108</a>
Alternative languages
Result language
angličtina
Original language name
Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity
Original language description
Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of a group of transmissible spongiform encephalopathies (prion diseases). The etiology of the sporadic form of CJD is still unclear. sCJD can occur in combination with other neurodegenerative diseases, which further complicates the diagnosis. Alzheimer's disease (AD), e.g., is often seen in conjunction with sCJD. Method: In this study, we performed a systematic analysis of 15 genes related to the most important neurodegenerative diseases - AD, frontotemporal dementia, amyotrophic lateral sclerosis, prion disease, and Parkinson's disease - in a cohort of sCJD and sCJD in comorbidity with AD and primary age-related proteinopathy (PART). A total of 30 neuropathologically verified cases of sCJD with and without additional proteinopathies were included in the study. In addition, we compared microtubule-associated protein tau (MAPT) haplotypes between sCJD patients and patients with sCJD and PART or sCJD and AD. Then we studied the interaction between the Apolipoprotein E gene (APOE) and PRNP in sCJD patients. Results: We did not find any causal mutations in the neurodegenerative disease genes. We did detect a p.E318G missense variant of uncertain significance (VUS) in PSEN1 in three patients. In PRNP, we also found a previously described non-pathogenic insertion (p.P84_Q91Q). Conclusion: Our pilot study failed to find any critical differences between pure sCJD and sCJD in conjunction with other comorbid neurodegenerative diseases. Further investigations are needed to better understand this phenomenon.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Frontiers in Neurology
ISSN
1664-2295
e-ISSN
—
Volume of the periodical
11
Issue of the periodical within the volume
November
Country of publishing house
CH - SWITZERLAND
Number of pages
6
Pages from-to
596108
UT code for WoS article
000598479600001
EID of the result in the Scopus database
2-s2.0-85097629686