|
gptkbp:instanceOf
|
gptkb:prion_disease
gptkb:rare_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
|
|
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
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Fatal familial insomnia
|