Statements (35)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
prion disease |
| gptkbp:affects |
thalamus
|
| gptkbp:averageSurvivalAfterOnset |
12 to 18 months
|
| gptkbp:cause |
progressive neurodegeneration
|
| gptkbp:diagnosedBy |
PET scan
genetic testing polysomnography |
| gptkbp:firstDescribed |
1986
|
| gptkbp:frequency |
extremely rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fatal familial insomnia
|
| gptkbp:ICD-10_code |
G31.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D020239
|
| gptkbp:mutationAssociatedWith |
gptkb:PRNP_gene
|
| gptkbp:namedFor |
Elio Lugaresi
|
| gptkbp:noKnownCure |
true
|
| gptkbp:notableCase |
Italian family described in 1986
|
| gptkbp:OMIM |
600072
|
| gptkbp:onset |
middle age
|
| gptkbp:relatedTo |
gptkb:Creutzfeldt-Jakob_disease
Sporadic fatal insomnia |
| gptkbp:symptom |
gptkb:dementia
weight loss autonomic dysfunction ataxia hallucinations progressive insomnia |
| gptkbp:symptomProgression |
gptkb:fire
|
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Prions
gptkb:PRNP gptkb:PRIDE_P0CG47 gptkb:PrP_(prion_protein) |
| gptkbp:bfsLayer |
8
|