(See also Overview of Prion Diseases Overview of Prion Diseases Prion diseases are progressive, fatal, and untreatable degenerative brain disorders. Prominent types include Creutzfeldt-Jakob disease (CJD), the prototypic example (usually sporadic) Variant... read more .)
Gerstmann-Sträussler-Scheinker disease (GSS) occurs worldwide and is about 100-fold less common than Creutzfeldt-Jakob disease Creutzfeldt-Jakob Disease (CJD) Creutzfeldt-Jakob disease (CJD) is the most common human prion disease. It occurs worldwide and has several forms and subtypes. CJD symptoms include dementia, myoclonus, and other central nervous... read more (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 Cerebellar Disorders Cerebellar disorders have numerous causes, including congenital malformations, hereditary ataxias, and acquired conditions. Symptoms vary with the cause but typically include ataxia (impaired... read more with unsteady gait, dysarthria, and nystagmus. Gaze palsies, deafness, dementia, parkinsonism Symptoms and Signs Secondary parkinsonism refers to a group of disorders that have features similar to those of Parkinson disease but have a different etiology. Atypical parkinsonism refers to a group of neurodegenerative... read more , 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.