Object's details: Non-invasive diagnostic methods for fatal familial insomnia

Provider:Akademicka Platforma Czasopism

Description

Title:
Non-invasive diagnostic methods for fatal familial insomnia
Creator:
Mikos, Eryk;
Moqbil, Sara;
Dmochowska, Joanna;
Wasyluk, Martyna;
Góralczyk, Wanesa
Description:
Fatal familial insomia (FFI) is a dominant autosomal genetic prion disease characterised by progressive sleep impairment, autonomic nervous system disorders and motor symptoms associated with significant loss of nerve cells in the medial thalamic nuclei. Making a diagnosis of FFI requires the presence of a certain or probable recognised first-degree relative of the patient, together with neuropsychiatric disorders present. In turn, the detection of the PrP mutation allows the diagnosis to be definitively established. In addition, three other tests - polysomnography, brain imaging and cerebrospinal fluid examination - can be helpful. Fatal familial insomnia is not a fully understood disease. Diagnosis is based on the presence of symptoms of the disease. An important step in diagnosis will be the development of non-invasive diagnostic tests that are reliable in the early and presymptomatic stages of the disease. Polysomnography, imaging studies (PET, SPECT) and cerebrospinal fluid examination should be improved and widely accepted.
Object availability:
free access
Rights:
Prawa autorskie (c) 2022 Eryk Mikos, Sara Moqbil, Joanna Dmochowska, Martyna Wasyluk, Wanesa Góralczyk;
http://creativecommons.org/licenses/by-nc-sa/4.0
Date:
2022.07.24
Type:
info:eu-repo/semantics/article;
info:eu-repo/semantics/publishedVersion
Language:
English
Source:
Journal of Education, Health and Sport; Vol. 12 No. 7 (2022); 616-619;
Journal of Education, Health and Sport; Tom 12 Nr 7 (2022); 616-619;
2391-8306
Format:
application/pdf
Publisher:
Nicolaus Copernicus University, Toruń, Poland
Relation: https://apcz.umk.pl/JEHS/article/view/39152/32798
Subject:
fatal familial insomnia;
diagnostic methods;
polysomnography;
imaging tests;
cerebrospinal fluid biomarkers
Identifier: https://apcz.umk.pl/JEHS/article/view/39152
Data provider:
Akademicka Platforma Czasopism

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