Prion diseases: Fatal familial insomnia

Madoń Barbara, Mikos Eryk, Nowaczek Justyna, Wasyluk Martyna, Wilczek Natalia. Prion diseases: Fatal familial insomnia. Journal of Education, Health and Sport. 2021;11(9):29-36. eISSN 2391-8306. DOI http://dx.doi.org/10.12775/JEHS.2021.11.09.004

https://apcz.umk.pl/czasopisma/index.php/JEHS/article/view/JEHS.2021.11.09.004

https://zenodo.org/record/5387300

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© The Authors 2021;

This article is published with open access at Licensee Open Journal Systems of Nicolaus Copernicus University in Torun, Poland

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Received: 15.08.2021. Revised: 15.08.2021. Accepted: 28.08.2021.

PRION DISEASES: FATAL FAMILIAL INSOMNIA

Barbara Madoń*, Eryk Mikos, Justyna Nowaczek, Martyna Wasyluk, Natalia Wilczek

Student Research Circle at the Chair and Department of Epidemiology and Clinical Research Methodology, Medical University of Lublin

*barb.madon@gmail.com

Introduction. Fatal familial insomnia (FFI) is one of the transmissible spongiform encephathalopathies characterized by neuronal loss, sleep impairment, subsequent non-specific disturbances of autonomic nervous system (e.g. tachycardia) and endocrine dysfunctions. It is fatal autosomal dominant prion disease, which is extremaly rare- FFI affects only about one person per milion annually. The aim of this study is to review the literature and systematize knowledge about fatal familial insomnia.

Brief description of the state of knowledge. The causative agent of this disease is a misfolded version of the physiological prion protein called PrP(Sc) in the brain.  Major vulnerable regions in FFI are mediodorsal and anterior ventral nuclei of the thalamus.  Average  survival time after the onset of symptoms is 18 months. Hence molecular mechanisms involved in pathogenesis are poorly understood, the disease is incureable yet. However, there are a number of therapeutic options currently under investigation, e.g. immunotherapy or doxycycline usage.

Conclusions. Subsequent researches are essential to improve understending of fatal familial insomnia. The prime issue is to develop functioning therapeutic or preventive treatment. While some of presented terapeutic approches appers promising, all of them require profoud research.

Key words: prion diseases; fatal familial insomnia; neurodegeneration; FFI treatment; prion