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| Gerstmann–Sträussler–Scheinker syndrome | |
|---|---|
| Classification and external resources | |
| ICD-10 | A819 |
| 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. 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.[How to reference and link to summary or text]
Familial cases are associated with autosomal dominant inheritance. [1]
Eponym[]
It is named for Josef Gerstmann, Ernst Sträussler, and Ilya Scheinker.[2][3]
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.
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]. GSS patients show widespread neuropathological amyloid plaques, akin to Alzheimer’s Disease.[6]
Prognosis[]
There is no cure or treatment for GSS. Symptoms may appear as early as 25 years of age, but usually in the late 50’s. Duration of illness can range from 3 months to 13 years, with an average duration of 5 or 6 years.[7]
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.
- ↑ Who Named It synd/2269
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
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.
- Italian Spongiform Encephalopathies Association—AIEnP onlus
- A.I.En.P. Association Cause
Template:Prion diseases