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What is Gerstmann-Straussler-Scheinker Disease?

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  • Written By: Mary McMahon
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  • Last Modified Date: 30 July 2014
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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.

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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.

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indemnifyme
Post 2

@JessicaLynn - I think it's completely possible scientists could find a cure for this and other forms of prion disease while doing other research. I know a lot of research is being done right now about gene therapy, which could potentially treat or cure a lot of different diseases.

Gerstmann-Straussler-Scheinker disease sounds pretty similar to Alzheimer's disease too. The clumsiness, muscles spasms, and eventual dementia are also Alzheimer's symptoms. It must be hard for doctors to differentiate. I wonder if some people are treated for Alzheimer's when they really have Gerstmann-Straussler-Scheinker disease instead?

JessicaLynn
Post 1

Incurable diseases are so depressing. I remember learning about this and other diseases like it (mad cow disease BSE is pretty similar, I believe that also had some effect on prions) in biology. Neurological diseases that are incurable are especially upsetting, because usually they cause dementia before the person dies.

Anyway, I can only hope that they find a cure for this disease while doing other research. The fact that Gerstmann-Straussler-Scheinker disease isn't that common is probably no comfort to people who suffer from it.

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