Gerstmann-Straussler-Scheinker syndrome
Findings
No curated finding names Gerstmann-Straussler-Scheinker syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.
Definition from the Mondo Disease Ontology (MONDO:0007656), read 2026-09-29. CC BY 4.0.
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- DysesthesiaHPOHP:0012534
- Very frequent (80% to 99% of cases)
- Gait ataxiaHPOHP:0002066
- Very frequent (80% to 99% of cases)
- Lower limb muscle weaknessHPOHP:0007340
- Very frequent (80% to 99% of cases)
- Abnormal central sensory functionHPOHP:0011730
- Frequent (30% to 79% of cases)
- Abnormal cerebellum morphologyHPOHP:0001317
- Frequent (30% to 79% of cases)
Show the remaining 6
- Diminished deep tendon reflexHPOHP:0001315
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- Mental deteriorationHPOHP:0001268
- Frequent (30% to 79% of cases)
- ParesthesiaHPOHP:0003401
- Frequent (30% to 79% of cases)
- Sleep disturbanceHPOHP:0002360
- Frequent (30% to 79% of cases)
- Limb myoclonusHPOHP:0045084
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:9449HGNC:9449
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: Gerstmann-Straussler-Scheinker syndrome
- Also called
- Gerstmann-Straussler-Scheinker diseaseprion dementiasubacute spongiform encephalopathy, Gerstmann-Straussler type