Non-invasive diagnostic methods for fatal familial insomnia

• Main Authors: Eryk Mikos (Author), Sara Moqbil (Author), Joanna Dmochowska (Author), Martyna Wasyluk (Author), Wanesa Góralczyk (Author)
• Format: Book
• Published: Kazimierz Wielki University, 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.12775/JEHS.2022.12.07.061; 2391-8306
• Keywords: fatal familial insomnia; diagnostic methods; polysomnography; imaging tests; cerebrospinal fluid biomarkers; Education; L; Sports; GV557-1198.995; Medicine; R
• Source: Journal of Education, Health and Sport, Vol 12, Iss 7 (2022)

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.