Gerstmann-Straussler-Scheinker is a hereditary disorder affecting prion protein that causes a transmissible spongioform encephalopathy.
Chromosome: 20p13
Gene: PRNP (prion protein)
Several codons may be the site of a mutation.
Inheritance: autosomal dominant
The onset is usually is in middle-age.
Clinical features:
(1) slowly progressive ataxia
(2) cognitive impairment including dementia
(3) spastic paraparesis
(4) extrapyramidal signs
(5) variable deafness
(6) variable psychiatric problems
CSF may contain 14-3-3 protein.
The course has a median lenght of 5 years which is longer than for sporadic Creutzfeld-Jakob disease.
Patients show deposition of prion protein amyloid in cerebral parenchyma and blood vessels. Patients with P102L mutations may show spongioform degeneration as well.
To read more or access our algorithms and calculators, please log in or register.
