Gerstmann-Straussler-Scheinker syndrome (GSS syndrome) is a rare, incurable prion disease. Gerstmann-Straussler-Scheinker syndrome usually runs in families - the reason for this is that the occurrence of an individual is influenced by inherited mutations. What are the symptoms of this disease? Can it be cured?

Gerstmann-Straussler-Scheinker syndromeusually runs in families - the reason for this is that the occurrence of an individual is influenced by inherited mutations. In the case of this syndrome, the mutation concerns the PRNP gene, the disease is inherited in an autosomal dominant manner. This means that in the case of a couple in which one of the parents is a carrier of the mutation causing the syndrome, the risk of passing it on to each child is as high as 50%. However, the mutation does not always have to come from the parents - it is possible for it to appear for the first time in a given family (such disorders are referred to as de novo mutations).

Gerstmann-Straussler-Scheinker syndrome: prion disease

Prion diseases at one time aroused the interest of many people - the reason was the cases of the so-called "mad cow disease". Although prion-mediated diseases are extremely rare, they still attract the attention of many scientists. The reason for this is the severity of these diseases and the fact that currently medicine does not have the means to cure them.

Gerstmann-Straussler-Scheinker syndrome: causes

Particles called prions are present in every human being, they are especially abundantly located within the nervous tissue. Proteins in the correct form - although their function is still not entirely clear - are completely harmless. On the other hand, modified, abnormal forms of prion proteins are defined as pathogenic. What distinguishes them from harmless creatures is that they have the ability to generate damage within the structures of the nervous system, but they can also influence normal prion proteins and transform them into pathogenic forms.

The phenomena described above underlie all prion diseases, including Gerstmann-Straussler-Scheinker syndrome (GSS). The disease is extremely rare, therefore its exact frequency is difficult to determine -however, it is estimated that it affects up to 10 out of 100 million people.

Gerstmann-Straussler-Scheinker syndrome: symptoms

Although the majority of patients with the mutation have it from birth, the symptoms of Gerstmann-Straussler-Scheinker syndrome appear after a relatively long time - usually the first symptoms are observed between the age of 35 and 55. The order of occurrence and the intensity of symptoms may vary from patient to patient, however, the following symptoms occur in the course of the syndrome:

  • progressive spinocerebellar ataxia (in the form of various motor coordination disorders)
  • dementia symptoms (e.g. memory impairment, slowing down of the pace of thought processes)
  • dysarthria (difficulties with articulation of speech)
  • swallowing impairment (dysphagia)
  • nystagmus, visual disturbances (sometimes even in the form of blindness)
  • spasticity (a significant increase in muscle tone)
  • parkinsonian symptoms (e.g. stiffness or tremors)

Gerstmann-Straussler-Scheinker syndrome: diagnostics

In the diagnosis of Gerstmann-Straussler-Scheinker syndrome, of course, the clinical picture of the disease is taken into account, however, genetic tests play a decisive role in the diagnosis. It is them that allow to confirm the diagnosis - their task is to determine whether the patient has a mutation in the PRNP gene. The disease can also be confirmed on the basis of postmortem anatomical examination of the brain. In patients with this syndrome, an accumulation of amyloid plaques, made of pathological prion protein, can be found - pathognomonic (i.e. specific for GSS syndrome) are the so-called multi-core plaques.

Gerstmann-Straussler-Scheinker syndrome: treatment

GSS syndrome, like other prion diseases, is an incurable entity. Neither the causative treatment nor any measures that would delay the progression of the patient's disease are known. However, patients are not left to themselves - symptomatic treatment is applied to reduce the intensity of their ailments as much as possible and improve their quality of life. There are some hopes for works on gene therapies, the use of which would inactivate mutated genes. However, these types of therapies are still being developed, so we have to wait for what the future holds - it is possible that in some time the Gerstmann-Straussler-Scheinker syndrome and other prion diseases may be successfully treated.

Gerstmann-Straussler-Scheinker syndrome: prognosis

The prognosis of people with the syndrome is ratherunsuccessful - once the symptoms of the disease appear, they increase over time, leading to increasing disability of the patient. The average survival time from the diagnosis of Gerstmann-Straussler-Scheinker syndrome is about 5 years, but it varies: in some patients the disease progresses rapidly and ends in death even after 3 months, while in others the survival exceeds 10 years.

Category:

Neurology