Prion diseases: fatal familial insomnia

• Main Authors: Barbara Madoń (Author), Eryk Mikos (Author), Justyna Nowaczek (Author), Martyna Wasyluk (Author), Natalia Wilczek (Author)
• Format: Book
• Published: Kazimierz Wielki University, 2021-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

<p><strong>Introduction. </strong>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.</p><p><strong>Brief description of the state of knowledge. </strong>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.</p><p><strong>Conclusions. </strong>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.</p>

Item Description

2391-8306
10.12775/JEHS.2021.11.09.004