Gerstmann-Sträussler-Scheinker disease is an autosomal dominant prion brain disease that typically begins during middle age.
(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) (1). 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. Brain MRI (diffusion- weighted imaging abnormalities as seen in sCJD) and CSF testing (RT-QuIC and other markers of neuronal injury as seen in sCJD) can sometimes suggest prion disease, but these diagnostic tests are less sensitive in GSS. Genetic testing can confirm the diagnosis.
There is only supportive treatment for GSS.
Reference
1. Ghetti B, Piccardo P, Zanusso G: Dominantly inherited prion protein cerebral amyloidoses — A modern view of Gerstmann-Sträussler-Scheinker. Handb Clin Neurol153:243-269, 2018. doi: 10.1016/B978-0-444-63945-5.00014-3
