What is Gerstmann-Straussler-Scheinker Disease?

Gerstmann-Straussler-Scheinker disease is an extremely rare inherited neurodegenerative disease which is currently not curable. It is part of a family of diseases known as Transmissible Spongiform Encephalopathies (TSEs), which appear to be caused by rogue proteins known as prions. These prions attack the brain and central nervous system, causing an assortment of symptoms which always eventually lead to death.

Incidence of this disease is quite low around the world, and your chances of having it are extremely slim. Only a few families have a documented history of Gerstmann-Straussler-Scheinker, and it does not always emerge in people who are related to each other. Because incidence of the disease is rare, scientists have not invested heavily in trying to find a cure, although a cure may someday be realized through gene therapy which addresses the genetic component of the disease, stopping it before it even begins. Such therapy could also potentially be used to treat victims of other TSEs.

Symptoms of Gerstmann-Straussler-Scheinker generally start when the patient is between 35-55 years of age, and the onset is typically slow. Progression may take two to 20 years; in some cases, patients may live a relatively normal life for some time, while in other instances the progress of the disease is rapid, barely giving the patient time to get his or her affairs in order. The first signs typically take the form of clumsiness and difficulty balancing or performing fine motor tasks, a combination of symptoms which is collectively known as ataxia.

In addition to ataxia, some patients also experience problems with their eyes which can lead to blindness, along with slurred speech and muscle spasms. Ultimately, the disease progresses into full-blown dementia, and the patient typically sinks into a coma. The most common cause of death for a patient with Gerstmann-Straussler-Scheinker is a secondary infection which is caused by the body's inability to cope with infections, with some families choosing to remove comatose patients from life support, since there is no expectation of recovery.

Like other TSEs, Gerstmann-Straussler-Scheinker can be difficult to identify while the patient is alive, as an autopsy and examination of the brain tissue is needed to confirm diagnosis. Patients are typically diagnosed with Gerstmann-Straussler-Scheinker when they have a family history of the disease and they exhibit the required symptoms without recovering from treatments which could address other causes of these symptoms. Treatment for Gerstmann-Straussler-Scheinker is primarily aimed at keeping the patient comfortable, since there is no cure.