Description of GSS

A.I.G.S.S. Association




Gerstmann-Sträussler-Scheinker disease is a very rare prion disease that affects about 1 person every 10,000,000 people. Like Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease is a prion disease. However, it is much less common than Creutzfeldt-Jakob disease. It usually starts earlier in life (affects people between 20 and 60) and progresses more slowly (with an average life expectancy of 5 years). Gerstmann-Sträussler-Scheinker disease is a genetic prion disease. That is, it is autosomal dominant: this means that if a person is sick with this disease, children have at least 50% chance of contracting the disease in their life. Usually, the first symptoms are pains in the back and legs, which resist even when treated with powerful painkillers. This is followed by clumsiness, instability and falls on the ground when walking (movement disorders). Speaking becomes difficult (disorder called dysarthria). Even eating becomes increasingly difficult and PEG (Percutaneous Endoscopic Gastrostomy) is often included in patients for feeding. In the final stages dementia develops, nystagmus (rapid movement of the eyes in one direction, followed by a slower drift in the original position) and deafness may develop. Muscle coordination is lost. Muscles can become stiff. Usually, the muscles that control breathing and coughing are compromised, resulting in a high risk of pneumonia, which is the most common cause of death along with septicemia. The diagnosis of Gerstmann-Sträussler-Scheinker disease is suggested by typical symptoms and a family history of the disease and is confirmed by genetic testing. No effective treatment is available. The treatment of Gerstmann-Sträussler-Scheinker disease focuses on alleviating symptoms.


Written by: PP. LIBERSKI, H. BUDKA, Gerstmann- Straussler- Scheinker. I. Human diseases. Folia Neuropatholog Suppl. B, 2004, pp.120-152
Gerstmann-Sträussler-Scheinker disease (GSS) is a slowly progressive hereditary autosomal dominant disease (OMIM: 137440) and the first human transmissible spongiform encephalopathy (TSE) in which a mutation in a gene (PRNP) encoding for prion protein (PrP) was discovered. The true prevalence is difficult to estimate but figures within the range of 1–10/100,000,000 are quoted. According to Budka et al., GSS is defined as a neurodegenerative disease “in family with dominantly inherited progressive ataxia and/or dementia): encephalo(myelo)pathy with multicentric PrP plaques”. Family “H” had been known in Viennese neuropsychiatric circles since the early twentieth century and was reported by Dimitz in 1913, by Gerstmann in 1928 and again by Gerstmann, Sträussler and Scheinker in 1936. It is of note that in the original paper from 1936 the first name of Isaak Scheinker was re-placed by the initial “I”. In Austria of that time, a mere three years before Anschluss and on the eve of Nazi invasion, it was apparently inappropriate to admit to Jewish extraction. Later on, Scheinker emigrated to the United States, where he became an established neuro-pathologist, publishing, among other works, “Neuropathology in its Clinicopathologic Aspects”, Springfield, Charles C Thomas (1947). In the 1928 paper Gerstmann described a peculiar reflex: when a patient extended both arms in front of the chest and the head was then turned to one side, both arms crossed, moving to the midline. The arm contralateral to the direction of turning was placed above the other arm. Subsequent members of the same family were described by von Braunmühl and Franz Seitelberger, then director of the Obersteiner Institute, Vienna, Austria. Four years before the discovery of the transmissible nature of kuru by Gajdusek et al. Seitelberger stressed the close neuropathological similarity (the amyloid plaques) of these two diseases and in a sense anticipated the transmissible nature of GSS. The history of the original GSS family, family “H” from Vienna, is interesting. The family stems from a small rural town in the lower Austria (Niederoesterreich) and had been diagnosed by local physicians as suffering from a form of hereditary neurosyphilis. As this diagnosis would stigmatize them, they decided to hide from doctors. In 1990 one of us (HB) consulted a female case suspected of CJD whose father had died, having been diagnosed as suffering from “Friedreich ataxia”. The maiden name of this case was that of the GSS family, family “H”. This discovery enabled modern studies to be performed on these fascinating kindred. In 1981 a seminar paper by Masters et al. was published in which GSS in several cases from well-known families was shown to be transmissible to non-human primates and attention was directed to diverse forms of amyloid in the brain. The Fujisaki strain of GSS (codon 102 mutation), first isolated by Tateishi et al., was passaged to mice, rats, guinea pigs and squirrel mon-keys. Another case with the same mutation was passaged to spider monkeys. This passage was later con-firmed by another experiment on marmosets. Only inocula derived from 5 brains with 102Leu have been trans-mitted. It is noteworthy that in the 1981 paper Masters et al. mentioned the “CG” family described by Worster-Drought et al. Although there was a phenotypical similarity to GSS with regard to amyloid plaques, it was later proved that this family represented familial British dementia with a genetic alteration obviously differentiating it from GSS.

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Italian Association against the disease of GERSTMANN STRAUSSLER SCHEINKER

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