(See also Overview of Prion Diseases.)
Gerstmann-Sträussler-Scheinker disease (GSS) occurs worldwide and is about 100-fold less common than Creutzfeldt-Jakob disease (CJD). It develops at an earlier age (40 versus 60 years), and average life expectancy is longer (5 years versus 6 months).
Patients have cerebellar dysfunction with unsteady gait, dysarthria, and nystagmus. Gaze palsies, deafness, dementia, parkinsonism, hyporeflexia, and extensor plantar responses are also common. Myoclonus is much less common than in CJD.
GSS should be considered in patients with characteristic symptoms and signs and a family history, particularly if they are ≤ 45 years. Genetic testing can confirm the diagnosis.
There is only supportive treatment for GSS.