Creutzfeldtova‐Jakobova choroba (CJch) je rýchlo progredujúce neliečiteľné neurodegeneratívne ochorenie, ktoré patrí do skupiny prionových chorôb. Predkladaná práca sa zameriava na výskyt jednotlivých foriem CJch na Slovensku a analyzuje trendy ochorenia v priebehu rokov 2007 - 2022. V danom období bolo vyšetrených spolu 6 685 vzoriek (3 127 vzoriek krvi, 3 155 vzoriek likvoru, 403 vzoriek mrazeného aj fixovaného mozgového tkaniva). Diagnóza CJch bola potvrdená v 287 prípadoch. Genetická forma ochorenia (gCJch) s mutáciou E200K na prionovom géne tvorila 74 % všetkých prípadov, sporadická forma CJch (sCJch) sa vyskytla v 26 %. Incidencia ochorenia má pri oboch formách CJch stúpajúci trend, v porovnaní s predchádzajúcimi časovými úsekmi je nárast incidencie štatisticky výrazne signifikantný (p > 0,001). Práca dokumentuje aj nárast veku postihnutých osôb, pri sCJch je priemerný vek 65,3 roka, v prípade gCJch (61,9 roka) je vekový nárast štatisticky signifikantný (p = 0,003). Analýza výskytu ochorenia z geografického hľadiska signalizuje pretrvávajúci zvýšený výskyt gCJch v Žilinskom a Banskobystrickom kraji, sCJch sa v zvýšenej miere vyskytuje v Bratislavskom, Trenčianskom a Banskobystrickom kraji.
Creutzfeldt-Jakob disease (CJD) is rapidly progressive, incurable neurodegenerative disorder which belongs to the group of prion diseases. The presented study focuses on the occurrence of each form of CJD in Slovakia and analyses its trends during the years 2007-2022. A total of 6685 samples (3127 blood samples, 3155 cerebrospinal fluid samples, 403 samples of frozen and fixed brain tissue) were examined in the given period. The final diagnosis of CJD was confirmed in 287 cases. The genetic form of the disease with E200K mutation on the prion gene was encountered in 74 % of all cases, 26 % was the sporadic form of CJD. Incidence of the disease has an increasing trend in both forms of CJD, compared to earlier periods. The increase in incidence is statistically significant (p>0.001). This study also documents the increase in age of diseased persons, the average age at onset sCJD was 65.3 years, in the case of gCJD the age increase is statistically significant (61.9 years, p=0,003). Analysis of the occurrence of the disease from geographical point of view shows constant increased occurrence of gCJD in Žilina and Banská Bystrica regions. Sporadic CJD has increased occurrence in Bratislava, Trenčín and Banská Bystrica regions.
- MeSH
- Creutzfeldtova-Jakobova nemoc * diagnóza epidemiologie MeSH
- incidence MeSH
- lidé MeSH
- polymorfismus genetický MeSH
- prionové nemoci diagnóza epidemiologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- práce podpořená grantem MeSH
- Geografické názvy
- Slovenská republika MeSH
Slovakia is characterised by an unusually high number of patients affected by genetic Creutzfeldt-Jakob disease (CJD) with E200K mutation at the PRNP gene. Penetrance of the mutation is incomplete (59%). Therefore, for the onset of the clinical manifestation, an influence of other endo- or exogenous factors could not be excluded. Experimental data suggest that copper and manganese levels may play an important role in the pathogenesis of prion diseases. The highest number of Slovak genetic CJD patients originates from Orava – the northern region of central Slovakia. Manganese is a dominant pollutant in Orava. The objective of this study was to clarify a possible exogenous influence of environmental Mn/Cu imbalance on the CJD clustering. Mn and Cu levels were analysed in the brain tissue of genetic CJD cases (from Orava and from control regions of Slovakia), as well as of sporadic CJD patients and controls. Analyses demonstrate i) significantly higher Mn level in focally accumulated, "clustering" genetic CJD cases in comparison to all other groups, ii) Cu status differences between compared groups were without statistical significance; decreased concentrations were found in genetic cases from extrafocal genetic CJD areas, iii) Mn/Cu ratios were increased in all CJD groups in comparison to controls. Metal ratios in clustering gCJD cases were significantly higher in comparison to sporadic cases and also to controls, but not to the extrafocal genetic CJD subgroup. These results indicate that more important than increasing Mn level in pathogenesis of CJD appears to be the role of the Mn/Cu imbalance in the CNS. The imbalance observed in the cluster of genetic CJD cases is probably a result of both: the excessive environmental Mn level and the disturbance of Mn/Cu ratios in the Orava region. Presented findings indicate an environmental Mn/Cu imbalance as a possible exogenous CJD risk co-factor which may, in coincidence with endogenous (genetic) CJD risk, contribute to the focal accumulation (cluster) of genetic CJD in Slovakia.
- MeSH
- Creutzfeldtova-Jakobova nemoc epidemiologie etiologie genetika MeSH
- lidé MeSH
- mangan analýza škodlivé účinky MeSH
- měď analýza škodlivé účinky MeSH
- mozek - chemie MeSH
- polymerázová řetězová reakce MeSH
- polymorfismus genetický MeSH
- priony genetika MeSH
- rizikové faktory MeSH
- shluková analýza MeSH
- studie případů a kontrol MeSH
- vystavení vlivu životního prostředí škodlivé účinky MeSH
- zeměpis MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- práce podpořená grantem MeSH
- Geografické názvy
- Slovenská republika MeSH
- MeSH
- Creutzfeldtova-Jakobova nemoc diagnóza MeSH
- elektroforéza kapilární využití MeSH
- prionové nemoci genetika imunologie MeSH
- Publikační typ
- kongresy MeSH
