Gerstmann-Sträussler-Scheinker syndrome
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| Gerstmann-Sträussler-Scheinker syndrome Classification and external resources | |
| ICD-10 | A81.9 |
|---|---|
| ICD-9 | 046.8 |
| 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. Familial cases are associated with autosomal dominant inheritance.
Causes
It is one of the few diseases which 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) of most affected individuals. 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 (wobbliness) and then the progressive dementia becomes more evident.
Prognosis
There is no cure or treatment for GSS and patients rarely survive longer than five years.
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
Prion diseases (A81, 046) | |
|---|---|
| Prion diseases in humans | Creutzfeldt-Jakob disease - Kuru - Gerstmann-Sträussler-Scheinker syndrome - Fatal familial insomnia |
| Prion diseases in animals | Bovine spongiform encephalopathy - Scrapie - Chronic wasting disease - Transmissible mink encephalopathy |
nl:Gerstmann-Sträussler-Scheinkersyndroom
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
