prion disease human prion disease sporadic fatal insomnia https://github.com/monarch-initiative/mondo/issues/6671 https://github.com/monarch-initiative/mondo/issues/6752 https://www.malacards.org/card/sporadic_fatal_insomnia Orphanet:586130 ICD10CM:A81.9 UMLS:C5567889 MONDO:0035614 A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years. GARD:0022349 MEDGEN:1799312