Gerstmann-Straussler-Scheinker syndrome
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.
MONDO:0005429
prion disease
is_a
MONDO:0100545
hereditary neurological disease
is_a
GSD
related
Gerstmann Straussler Scheinker syndrome
related
Gerstmann-Straussler disease
related
Gerstmann-Straussler-Scheinker disease
exact
amyloidosis cerebral with spongiform encephalopathy
related
cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system
related
encephalopathy subacute spongiform Gerstmann-Straussler type
related
prion dementia
exact
subacute spongiform encephalopathy, Gerstmann-Straussler type
exact