Gerstmann-Sträussler-Scheinker syndrome
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurodegenerative disease
prion disease |
| gptkbp:affects |
central nervous system
|
| gptkbp:causedBy |
mutation in PRNP gene
|
| gptkbp:duration |
5-10 years
|
| gptkbp:eponymOf |
gptkb:Ilya_Scheinker
gptkb:Josef_Gerstmann gptkb:Ernst_Sträussler |
| gptkbp:firstDescribed |
1936
|
| gptkbp:frequency |
very rare
|
| gptkbp:hasOrphanetID |
ORPHA:399
|
| https://www.w3.org/2000/01/rdf-schema#label |
Gerstmann-Sträussler-Scheinker syndrome
|
| gptkbp:ICD-10_code |
A81.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
137440
|
| gptkbp:onset |
middle adulthood
|
| gptkbp:pathology |
amyloid plaques
spongiform changes |
| gptkbp:prognosis |
progressive and fatal
|
| gptkbp:symptom |
gptkb:dementia
spasticity ataxia parkinsonism dysarthria progressive intellectual decline |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Creutzfeldt-Jakob_disease
gptkb:transmissible_spongiform_encephalopathy |
| gptkbp:bfsLayer |
6
|