文章基本信息

标题：Prion diseases: fatal familial insomnia
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作者：Barbara Madoń ; Eryk Mikos ; Justyna Nowaczek 等
期刊名称：Journal of Education, Health and Sport
电子版ISSN：2391-8306
出版年度：2021
卷号：11
期号：9
页码：29-36
DOI：10.12775/JEHS.2021.11.09.004
语种：English
出版社：Kazimierz Wielki University
摘要：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.