Gerstmann-Straussler-Scheinker syndrome
Synonyms: Subacute spongiform encephalopathy, Gerstmann-Straussler type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gerstmann-Straussler-Scheinker syndrome | Subacute spongiform encephalopathy, Gerstmann-Straussler type |
| fr | Syndrome de Gerstmann-Straussler-Scheinker | Encéphalopathie spongiforme subaiguë type Gerstmann-Straussler |
| de | Gerstmann-Sträussler-Scheinker-Syndrom | Enzephalopathie, spongiforme subakute, Typ Gerstmann-Sträussler · GSS |
| es | Síndrome de Gerstmann-Straussler-Scheinker | |
| it | Sindrome di Gerstmann-Straussler-Scheinker | Encefalopatia spongiforme subacuta, tipo Gerstmann-Straussler |
| nl | Syndroom van Gerstmann-Straussler-Scheinker | Subacute spongiforme encefalopathie, Gerstmann-Straussler-type |
| pt | Síndrome Gerstmann-Straussler-Scheinker | Encefalopatia espongiforme sub-aguda, tipo Gerstmann-Straussler |
| pl | Zespół Gerstmanna, Strausslera i Scheinkera | Podostra gąbczasta forma encefalopatii, typu Gerstmanna i Strausslera |
| cs | Gerstmannova-Strausslerova-Scheinkerova nemoc | Subakutní spongiformní encefalopatie, Gerstmannův-Strausslerův typ · Gerstmannův-Strausslerův-Scheinkerův syndrom · Gerstmann-Straussler-Scheinkerova nemoc · Subakutní spongiformní encefalopatie, Gerstmann-Strausslerův typ · Gerstmann-Straussler-Scheinkerův syndrom |
| uk | Синдром Герстмана-Страусслера-Шейнкера | Підгостра губчаста енцефалопатія типу Герстмана-Штраусслера |
| zh | Gerstmann-Sraussler-Scheinker综合征 | 亚急性海绵状脑病，Gerstmann-Straussler型 |
| tr | Gerstmann-Straussler-Scheinker sendromu | Subakut süngerimsi ensefalopati, Gerstmann-Straussler tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137440 | BTNT | validated | |
| OMIM | 606688 | BTNT | validated | |
| ICD-10 | A81.8 | NTBT | attributed | validated |
| ICD-11 | 8E02.1 | E | specific | validated |
| MONDO | 0007656 | E | validated | |
| MeSH | D016098 | E | validated | |
| UMLS | C0017495 | E | validated | |
| GARD | 7690 | E | validated | |
| MedDRA | 10072075 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:280400Inherited human prion disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRNP | Disease-causing germline mutation(s) in | Assessed | HGNC:9449 | ENSG00000171867 | 176640 | 20p13 | prion protein (Kanno blood group) | 20301407[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Annual incidence | <1 / 1 000 000 | 0.0055 / 100 000 | Worldwide | Value and class | Validated | 16903147[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2021-07-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0012534 | Dysesthesia | |
| HP:0002066 | Gait ataxia | |
| HP:0007340 | Lower limb muscle weakness | |
| Frequent (79-30%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0011730 | Abnormality of central sensory function | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0031006 | Acroparesthesia | |
| HP:0001284 | Areflexia | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0000726 | Dementia | |
| HP:0001260 | Dysarthria | |
| HP:0001268 | Mental deterioration | |
| HP:0002062 | Morphological abnormality of the pyramidal tract | |
| HP:0003401 | Paresthesia | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002360 | Sleep abnormality | |
| Occasional (29-5%) | ||
| HP:0045084 | Limb myoclonus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30103963[PMID]_20301407[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/356
- This record as JSON: /data/d/356.json