Gerstmann-straussler disease

Preferred Label : Gerstmann-straussler disease;

Symbol : GSD;

CISMeF acronym : GSD; GSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Encephalopathy, subacute spongiform, gerstmann-straussler type; Gerstmann-straussler-scheinker disease; Cerebellar ataxia, progressive dementia, and amyloid deposits in cns; Amyloidosis, cerebral, with spongiform encephalopathy; Prion dementia; GSS;

Included titles and symbols : Cerebral amyloid angiopathy, prnp-related;

Description : Gerstmann-Straussler disease is a rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain (Gerstmann et al., 1936). Gerstmann-Straussler disease typically presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years. GSD can be distinguished from CJD by earlier age at onset, longer disease duration, and prominent cerebellar ataxia (Masters et al., 1981). On the basis of clinical and pathologic criteria, Hsiao et al. (1989) suggested that Gerstmann-Straussler syndrome could be classified into 3 forms: an 'ataxic' form, a 'dementing' form, and a dementing form that is accompanied by pathologic quantities of neurofibrillary tangles (NFTs). However, these distinctions may only underscore the phenotypic variability in presentation and progression of the disease (Panegyres et al., 2001).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the prion protein gene (PRNP, 176640.0002);

Prefixed ID : #137440;

Details

Origin ID

137440;

UMLS CUI

C0017495;

Automatic exact mappings (from CISMeF team)
- Amyloidosis, Cerebral, with Spongiform Encephalopathy [MeSH concept]
- General Social Survey [NCIt concept]
- Gerstmann-Straussler-Scheinker syndrome [DO Concept]
- Glutathione Synthetase [NCIt concept]
- Glycogen storage disease [ICD-11 Subcategory]
- Glycogen storage disease [ORDO Disease]
- Interleukin-1 (substance) [SNOMED CT concept]
- PRNP wt Allele [NCIt concept]
- amyloidosis, cerebral, with spongiform encephalopathy [MeSH Supplementary Concept]
- glutathione synthetase [ORDO Gene]
Currated CISMeF NLP mapping
- Gerstmann Straussler Scheinker disease [Disease (Nov.)]
- Gerstmann Straussler Scheinker syndrome [MedDRA Preferred Term]
- Gerstmann-Straeussler-Scheinker syndrome [MedDRA LLT]
- Gerstmann-Straussler-Scheinker Disease [NCIt concept]
- Gerstmann-Straussler-Scheinker disease [MeSH concept]
- Gerstmann-Straussler-Scheinker syndrome [ICD-11 Subcategory]
- Gerstmann-Straussler-Scheinker syndrome [ORDO Disease]
- Gerstmann-Straussler-Scheinker syndrome (disorder) [SNOMED CT concept]
- Gerstmann-Sträussler-Scheinker syndrome [PASCAL descriptor]
- gerstmann-straussler-scheinker disease [MeSH Descriptor]
- gerstmann-straussler-scheinker syndrome [SNOMED Notion]
DO Cross reference
- Gerstmann-Straussler-Scheinker syndrome [DO Concept]
False automatic mappings
- Decay accelerating factor (substance) [SNOMED CT concept]
Genes related to phenotype
- Prion protein [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Aggressive behavior [HPO term]
- Apraxia [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Cerebellar atrophy [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Emotional lability [HPO term]
- Gait ataxia [HPO term]
- Hyperreflexia [HPO term]
- Impaired smooth pursuit [HPO term]
- Limb ataxia [HPO term]
- Lower limb muscle weakness [HPO term]
- Memory impairment [HPO term]
- Memory loss [HPO term]
- Myoclonus [HPO term]
- Neurofibrillary tangles [HPO term]
- Parkinsonism [HPO term]
- Perseveration [HPO term]
- Personality changes [HPO term]
- Psychosis [HPO term]
- Rapidly progressive [HPO term]
- Rigidity [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
- Truncal ataxia [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Gerstmann-Straussler-Scheinker syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gerstmann Straussler Scheinker disease [Disease (Nov.)]
- Gerstmann Straussler Scheinker syndrome [MedDRA Preferred Term]
- Gerstmann-Straeussler-Scheinker syndrome [MedDRA LLT]
- Gerstmann-Straussler-Scheinker Disease [NCIt concept]
- Gerstmann-Straussler-Scheinker disease [MeSH concept]
- Gerstmann-Straussler-Scheinker syndrome [ORDO Disease]
- Gerstmann-Straussler-Scheinker syndrome [DO Concept]
- Gerstmann-Straussler-Scheinker syndrome (disorder) [SNOMED CT concept]
- Gerstmann-Str├â┬ñussler-Scheinker syndrome [ICD-9 code]
- gerstmann-straussler-scheinker disease [MeSH Descriptor]
- gerstmann-straussler-scheinker syndrome [SNOMED Notion]

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