Gerstmann-Sträussler-Scheinker syndrome

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Gerstmann-Sträussler-Scheinker syndrome (GSS) is a very rare, usually familial, fatal neurodegenerative disease that affects patients in the third to seventh decades of life. It is one of the few diseases which are caused by prions; a class of diseases called transmissible spongiform encephalopathies (TSEs). People suffering from GSS initially develop ataxia (problems with movement and balance), followed later by dementia. There is no cure or treatment for GSS and patients rarely survive longer than five years.

The exact incidence of GSS is unknown but is estimated to be between 1 to 10 per 100 million. Familial cases are associated with autosomal dominant inheritance. A change in codon 102 from proline to leucine has been found in the prion protein gene (PRNP) of most affected individuals. Therefore, it appears this genetic change is usually required for the development of the disease.

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 et al (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
[PMID 11535002]

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