I would like to ask on this gene, what its role in causing death? and if anyone knows any way for treatment or prevention the disease induced by this gene?
Gerstmann–Sträussler–Scheinker syndrome (GSS) is named by the German doctors Josef Gerstmann, Ernst Sträussler and Ilya Scheinker in 1936 and it is a very rare, usually familial, fatal neurodegenerative disease that affects patients from 20 to 60 years in age. This extremely rare disease is classified as a transmissible spongiform encephalopathy (TSE). The exact incidence of GSS is unknown but is estimated to be between 1 and 10 per 100 million.
Familial cases are associated with autosomal-dominant inheritance. Gerstmann-Straussler-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. 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 (Farlow, et al., 1989).
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 on chromosome 20, has been found in the prion protein gene (PRNP) of most affected individuals. Therefore, it appears this genetic change which is usually required for the development of the disease.
Symptoms start with slowly developing dysarthria (difficulty speaking) and cerebellar ataxia (unsteadiness) and then the progressive dementia becomes more evident. Loss of memory can be the first symptom of GSS.
Extrapyramidal and pyramidal symptoms and signs may occur and the disease may mimic spinocerebellar ataxias at the beginning. Myoclonus, spasmodic muscle contraction, is less frequently seen than in Creutzfeldt-Jakob disease. Many patients also exhibit nystagmus (involuntary movement of the eyes), visual disturbances, and even blindness or deafness. The neuropathological findings of GSS include widespread deposition of amyloid plaques composed of abnormally folded prion protein.
GSS can include some or many of these symptoms; progressive ataxia (lack of muscle coordination), pyramidal signs, adult-onset dementia, dysarthria (slurred speech), nystagmus (involuntary movements of the eyes), spasticity (rigid muscle tone), some may even experience parkinsonian features. After the disease is diagnosed, many patients will experience psychosis or severe depression with rapid weight loss (Farlow, et al., 1996).
There is no cure or any known treatment for GSS, it can be identified through genetic testing. This helps to slow the progression of the disease. However, therapies and medication are aimed at treating or slowing down the effects of the symptoms. Their goal is to try to improve the patient's quality of life as much as possible. Despite there being no cure for GSS, it is possible to undergo testing for the presence of the underlying genetic mutation. Testing for GSS involves a blood and DNA examination in order to attempt to detect the mutated gene at certain codons. If the genetic mutation is present, the patient will eventually be afflicted by GSS, and, due to the genetic nature of the disease, the offspring of the patient are predisposed to a higher risk of inheriting the mutation.
Finally, GSS is the slowest to progress among human prion diseases. Duration of illness can range from 3 months to 13 years, with an average duration of 5 or 6 years.
Please, see the attached paper.
References:
Arata. H., Takashima, H. & Hirano R. (2006). "Early clinical signs and imaging findings in Gerstmann–Sträussler–Scheinker syndrome (Pro102Leu)". Neurology 66 (11): 1672–8. doi:10.1212/01.wnl.0000218211.85675.18. PMID 16769939.
Collins, S., McLean C.A. & Masters C.L. (2001). "Gerstmann–Sträussler–Scheinker syndrome,fatal familial insomnia, and kuru: a review of these less common human transmissible spongiform encephalopathies". J Clin Neurosci 8 (5): 387–97. doi:10.1054/jocn.2001.0919. PMID 11535002.
De Michele, G., Pocchiari, M. & Petraroli R. (2003). "Variable phenotype in a P102L Gerstmann–Sträussler–Scheinker Italian family". Can J Neurol Sci 30 (3): 233–6. PMID 12945948.
Farlow, M.R., Yee, R.D., Dlouhy, S.R., Conneally, P.M., Azzarelli B., Ghetti, B. (1989). Gerstmann-Straussler-Scheinker disease. I. Extending the clinical spectrum. Neurology 39:1446 –1452.
Gerstmann, J., Sträussler, E. & Scheinker, I. (1936). "Über eine eigenartige hereditär-familiäre Erkrankung des Zentralnervensystems. Zugleich ein Beitrag zur Frage des vorzeitigen lokalen Alterns". Zeitschrift für die gesamte Neurologie und Psychiatrie 154: 736–762. doi:10.1007/bf02865827.
Gambetti, P. (2011). "Gerstmann-Sträussler-Scheinker Disease". The Merck Manuals: Online Medical Library. Retrieved 4/6/11.
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