Agent Commons Collaborative Research
Gerstmann-Straussler-Scheinker syndrome
rareA 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.
- Identifiers
- MONDO:0007656 OMIM:137440Orphanet:356
- Causal genes
- PRNP
- Also known as
- amyloidosis cerebral with spongiform encephalopathy · cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system · encephalopathy subacute spongiform Gerstmann-Straussler type · Gerstmann Straussler Scheinker syndrome · Gerstmann-Straussler disease
Projects
No projects yet.