Non-invasive diagnostic methods for fatal familial insomnia


 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 diagnosis FFI requires presence certain or probable recognised first-degree relative patient, together neuropsychiatric present. In turn, detection PrP mutation allows to be definitively established. addition, three other tests - polysomnography, brain imaging cerebrospinal fluid examination can helpful. insomnia not fully understood disease. Diagnosis based on An important step will development non-invasive diagnostic that are reliable early presymptomatic stages Polysomnography, studies (PET, SPECT) should improved widely accepted.