loading...| Preferred Name |
Gerstmann-Straussler-Scheinker Disease |
|
| Synonyms |
Gerstmann-Straussler Inherited Spongiform Encephalopathy|Gerstmann-Straussler Syndrome |
|
| ID |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12691 |
|
| abbrev | ||
| class_or_indiv |
true |
|
| 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 (MeSH). |
|
| external_id_urls |
http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D016098 |
|
| external_ids |
meshUID:D016098 |
|
| label |
Gerstmann-Straussler-Scheinker Disease |
|
| mod_date |
2007-10-05 |
|
| preferred_label |
Gerstmann-Straussler-Scheinker Disease |
|
| prefixIRI |
birnlex_12691 |
|
| retired |
false |
|
| synonyms |
Gerstmann-Straussler Inherited Spongiform Encephalopathy|Gerstmann-Straussler Syndrome |
|
| subClassOf |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12686 |