Gerstmann–Sträussler–Scheinker syndrome
| Gerstmann–Sträussler–Scheinker syndrome | |
|---|---|
| Classification and external resources | |
| ICD-10 | A81.9 |
| ICD-9 | 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.[citation needed] 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 to 10 per 100 million.[citation needed]
Familial cases are associated with autosomal dominant inheritance.[1]
Contents |
[edit] Eponym
It is named after Josef Gerstmann, Ernst Sträussler and Ilya Scheinker.[2][3]
[edit] Causes
GSS is one of a small number of diseases which 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.[4] Therefore, it appears this genetic change is usually required for the development of the disease.
[edit] Symptoms
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.[5] Extrapyramidal and pyramidal symptoms and signs may occur and the disease may mimic spinocerebellar ataxias at the beginning. Myoclonus is less frequently seen than in CJD. Many patients also exhibit nystagmus (involuntary movement of the eyes), visual disturbances, and even blindness or deafness. [6] The neuropathological findings of GSS include widespread deposition of amyloid plaques composed of abnormally folded prion protein.[5]
[edit] Prognosis
There is no cure or treatment for GSS. It can, however, be identified through genetic testing.[7] 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.[8]
[edit] Notes
- ^ De Michele G, Pocchiari M, Petraroli R, et al. (August 2003). "Variable phenotype in a P102L Gerstmann–Sträussler–Scheinker Italian family". Can J Neurol Sci 30 (3): 233–6. PMID 12945948. http://cjns.metapress.com/openurl.asp?genre=article&issn=0317-1671&volume=30&issue=3&spage=233.
- ^ synd/2269 at Who Named It?
- ^ J. Gerstmann, E. Sträussler, I. Scheinker. Über eine eigenartige hereditär-familiäre Erkrankung des Zentralnervensystems. Zugleich ein Beitrag zur Frage des vorzeitigen lokalen Alterns. Zeitschrift für die gesamte Neurologie und Psychiatrie, 1936, 154: 736–762.
- ^ Arata H, Takashima H, Hirano R, et al. (June 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. http://www.neurology.org/cgi/pmidlookup?view=long&pmid=16769939.
- ^ a b 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". Journal of Clinical Neuroscience 8 (5): 387–397. doi:10.1054/jocn.2001.0919. PMID 11535002.
- ^ Gambetti, Pierluigi. "Gerstmann-Sträussler-Scheinker Disease". The Merck Manuals: Online Medical Library. http://www.merckmanuals.com/home/sec06/ch090/ch090d.html. Retrieved 4/6/11.
- ^ Gambetti, Pierluigi. "Gerstmann-Sträussler-Scheinker Disease". The Merck Manuals: Online Medical Library. http://www.merckmanuals.com/home/sec06/ch090/ch090d.html. Retrieved 4/6/11.
- ^ 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. Journal of Clinical Neuroscience, 8(5), 387–397.
[edit] External links
- Gerstmann–Sträussler–Scheinker syndrome, MedicineNet.com
- UK CJD Surveillance Unit Monitors UK GSS cases and gives a comprehensive list of relevant links.
- Collins S, McLean CA, Masters CL (September 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. http://linkinghub.elsevier.com/retrieve/pii/S0967-5868(01)90919-1.
- Italian Spongiform Encephalopathies Association—AIEnP onlus
- A.I.En.P. Association Cause
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