Gerstmann–Sträussler–Scheinker syndrome

URI: https://gptkb.org/entity/Gerstmann–Sträussler–Scheinker_syndrome
GPTKB entity
Statements (35)
Predicate Object
gptkbp:instanceOf neurodegenerative disease
prion disease
gptkbp:affects central nervous system
gptkbp:alsoKnownAs gptkb:GSS_syndrome
gptkbp:causedBy mutation in PRNP gene
gptkbp:diagnosedBy neurological examination
genetic testing
gptkbp:firstDescribed 1936
gptkbp:frequency very rare
https://www.w3.org/2000/01/rdf-schema#label Gerstmann–Sträussler–Scheinker syndrome
gptkbp:ICD-10_code A81.8
gptkbp:inheritance autosomal dominant
gptkbp:MeSH_ID D020868
gptkbp:mortalityRate 100%
gptkbp:namedAfter gptkb:Ilya_Scheinker
gptkb:Josef_Gerstmann
gptkb:Ernst_Sträussler
gptkbp:OMIM 137440
gptkbp:onset middle age
gptkbp:pathology amyloid plaques
spongiform changes
gptkbp:prognosis fatal
gptkbp:progression slowly progressive
gptkbp:relatedTo gptkb:Creutzfeldt–Jakob_disease
gptkb:fatal_familial_insomnia
gptkbp:symptom gptkb:dementia
spasticity
ataxia
parkinsonism
dysarthria
gptkbp:treatment supportive care
gptkbp:bfsParent gptkb:Josef_Gerstmann
gptkb:Eugen_Sträussler
gptkb:Creutzfeldt–Jakob_disease
gptkbp:bfsLayer 6