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Gerstmann-Sträussler-Scheinker Disease

By Pierluigi Gambetti, MD, Professor of Pathology, Case Western Reserve University

Gerstmann-Sträussler-Scheinker disease is a prion disease that causes loss of coordination followed by slow deterioration of mental function. The disease is fatal, usually in about 5 years.

Like Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease is a prion disease that may occur anywhere in the world. However, it is much less common than Creutzfeldt-Jakob disease. It usually begins earlier in life (affecting people in their 40s rather than in their 60s), and progresses more slowly (with an average life expectancy of 5 years rather than 6 months). This disease runs in families.

Usually, the first symptoms are clumsiness and unsteadiness when walking. Muscle jerking (myoclonus) is much less common than in Creutzfeldt-Jakob disease. Speaking becomes difficult (called dysarthria), and dementia develops. Nystagmus (rapid movement of the eyes in one direction, followed by a slower drift back to the original position) and deafness may develop. Muscle coordination is lost. The muscles may become stiff. Usually, the muscles that control breathing and coughing are impaired, resulting in a high risk of pneumonia, which is the most common cause of death.

The diagnosis is suggested by typical symptoms and a family history of the disease and can be confirmed by genetic testing.

No effective treatment is available. Treatment focuses on relieving symptoms.