loading...| Preferred Name |
Gerstmann-Straussler-Scheinker Disease [Disease/Finding] |
|
| Synonyms |
Inherited Spongiform Encephalopathy, Gerstmann-Straussler |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003358 |
|
| altLabel |
Inherited Spongiform Encephalopathy, Gerstmann-Straussler Gerstmann-Straussler Disease Gerstmann-Straussler-Scheinker Syndrome Gerstmann-Straussler Inherited Spongiform Encephalopathy Gerstmann-Straussler-Scheinker Disease Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type Gerstmann-Straussler Syndrome |
|
| cui |
C0017495 |
|
| MESH DEFINITION |
An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75) |
|
| MESH DUI |
D016098 |
|
| MeSH name |
Gerstmann-Straussler-Scheinker Disease |
|
| MESH UI |
M0024593 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000003358 |
|
| NUI |
N0000003358 |
|
| prefLabel |
Gerstmann-Straussler-Scheinker Disease [Disease/Finding] |
|
| SNOMED CID |
67155006 |
|
| tui |
T047 |
|
| subClassOf |