loading...| Preferred Name |
Gerstmann-Straussler-Scheinker syndrome |
|
| Synonyms |
Subacute spongiform encephalopathy, Gerstmann-Straussler type |
|
| Definitions |
A rare inherited human prion disease characterized by adult onset of slowly progressive cerebellar ataxia, with dementia developing relatively late in the disease course (classic ataxic phenotype). Patients may present with gait disturbances and frequent falls, dysarthria, dysphagia, nystagmus, dysmetry, and eventually pancerebellar syndrome, myoclonus, spasticity, severe dementia, and mutism. The disease is invariably fatal after five years on average. Neuropathological hallmark is the presence of numerous multicentric prion protein plaques in the cerebral and cerebellar cortex. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_356 |
|
| alternative_term |
Subacute spongiform encephalopathy, Gerstmann-Straussler type |
|
| definition |
A rare inherited human prion disease characterized by adult onset of slowly progressive cerebellar ataxia, with dementia developing relatively late in the disease course (classic ataxic phenotype). Patients may present with gait disturbances and frequent falls, dysarthria, dysphagia, nystagmus, dysmetry, and eventually pancerebellar syndrome, myoclonus, spasticity, severe dementia, and mutism. The disease is invariably fatal after five years on average. Neuropathological hallmark is the presence of numerous multicentric prion protein plaques in the cerebral and cerebellar cortex. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356 |
|
| has_age_of_onset |
Adult |
|
| has_inheritance |
Not applicable Autosomal dominant |
|
| hasDbXref |
ICD-10:A81.8 ICD-11:8E02.1 MeSH:D016098 OMIM:137440 MedDRA:10072075 UMLS:C0017495 |
|
| label |
Gerstmann-Straussler-Scheinker syndrome |
|
| notation |
ORPHA:356 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_356 |
|
| prefLabel |
Gerstmann-Straussler-Scheinker syndrome |
|
| present_in |
Worldwide AND has_annual_incidence_average_value : 0.0055 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView | ||
| subClassOf |