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. 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.[1]

Contents

Eponym

It is named after 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] 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]

Prognosis

There is no cure or treatment for GSS. It can, however, be identified through genetic testing.[7] 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.[8]

Notes

  1. ^ 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. 
  2. ^ synd/2269 at Who Named It?
  3. ^ 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.
  4. ^ 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. 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ 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. 
  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.

External links

Prion diseases in humans
inherited/PRNP: fCJD · Gerstmann–Sträussler–Scheinker syndrome · Fatal familial insomnia
sporadic: sCJD
acquired/transmissible: Kuru · vCJD
Prion diseases in animals