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Gerstmann–Sträussler–Scheinker syndrome

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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]

EponymEdit

It is named for Josef Gerstmann, Ernst Sträussler, and Ilya Scheinker.[2][3]

CausesEdit

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.

SymptomsEdit

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]

PrognosisEdit

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]

NotesEdit

  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.
  2. Who Named It synd/2269
  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.
  5. 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.
  6. 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.
  7. 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 linksEdit

Template:Prion diseases

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