Gerstmann–Sträussler–Scheinker syndrome
| Gerstmann–Sträussler–Scheinker syndrome | |
|---|---|
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| First report of the GSS syndrome | |
| Classification and external resources | |
| Specialty | infectious disease |
| ICD-10 | A81.9 |
| ICD-9-CM | 046.71 |
| OMIM | 137440 |
| DiseasesDB | 30729 |
| MeSH | D016098 |
Gerstmann–Sträussler–Scheinker syndrome (GSS) is a very rare, usually familial, fatal neurodegenerative disease that affects patients from 20 to 60 years in age. Though exclusively heritable, this extremely rare disease is classified with the transmissible spongiform encephalopathies (TSE) due to the causative role played by PRNP, the human prion protein.
Familial cases are associated with autosomal-dominant inheritance. Gerstmann–Sträussler–Scheinker disease (GSS) is an extremely rare neurogenetic brain disorder. It is always inherited and is found in only a few families all over the world (according to NINDS). The trait is an autosomal-dominant trait caused by a gene mutation. It is also in a group of hereditary prion protein diseases or also known as TSEs. Many symptoms are associated with GSS, such as progressive ataxia, pyramidal signs, and even adult-onset dementia; they progress more as the disease progresses.
GSS is named for Josef Gerstmann, Ernst Sträussler and Ilya Scheinker, the Austrian physicians who first described it in the mid-1930s.
GSS is one of a small number of diseases that are caused by prions, a class of pathogenic proteins highly resistant to proteases.
A change in codon 102 from proline to leucine has been found in the prion protein gene (PRNP, on chromosome 20) of most affected individuals. Therefore, it appears this genetic change is usually required for the development of the disease.
GSS is very rare, making its history hard to track exactly where it descended from. Gerstmann–Sträussler–Scheinker syndrome (GSS) was first described as neurodegenerative diseases in the 1920s (Elsevier Science, 2002). Gerstmann–Sträussler–Scheinker (GSS) is called this because it was first reported in 1936 by Josef Gerstmann, Ernst Sträussler and Ilya Scheinker. In 1989, the first mutation of the prion protein gene was identified in a GSS family (Elsevier Science, 2002). Prion diseases (transmissible spongiform encephalopathies) are rare degenerative diseases of the brain thought to be caused by a protein that converts to an abnormal form called a prion (Gambetti Pierluigi, 2013). GSS was later realized to have many different gene mutation types, with some showing different symptoms first or having other symptoms worse than others. Doctors in different parts of the world are uncovering more generations and families that have the mutation. It is hard to discover GSS for two main reasons: (1) the disease has been reported in only a few countries; and (2) the disease may be underreported due to its clinical similarity to other diseases (Ghetti B, et al., 2003). The Indiana Kindred is the largest, spanning over 8 generations, and includes over 3,000 people with 57 individuals known to be affected (B. Ghetti, et al., 1996).
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