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Familial cases are associated with [[autosomal]] dominant inheritance.<ref name="pmid12945948">{{cite journal |author=De Michele G, Pocchiari M, Petraroli R, ''et al.'' |title=Variable phenotype in a P102L Gerstmann–Sträussler–Scheinker Italian family |journal=Can J Neurol Sci |volume=30 |issue=3 |pages=233–6 |year=2003 |month=August |pmid=12945948 |url=http://cjns.metapress.com/openurl.asp?genre=article&issn=0317-1671&volume=30&issue=3&spage=233}}</ref>
Familial cases are associated with [[autosomal]] dominant inheritance.<ref name="pmid12945948">{{cite journal |author=De Michele G, Pocchiari M, Petraroli R, ''et al.'' |title=Variable phenotype in a P102L Gerstmann–Sträussler–Scheinker Italian family |journal=Can J Neurol Sci |volume=30 |issue=3 |pages=233–6 |year=2003 |month=August |pmid=12945948 |url=http://cjns.metapress.com/openurl.asp?genre=article&issn=0317-1671&volume=30&issue=3&spage=233}}</ref>
Gerstmann-Straussler-Scheinker Disease (GSS) is an extremely rare neurogenetic brain disorder. It is always inherited and is found in only a few families all over the world (NINDS ¶ 1). The trait is an autosomal dominant trait, caused by a gene mutation. It is also in a group of heredity prion protein diseases or also known as TSE’s. Many symptoms are associated with GSS like progressive ataxia, pyramidal signs, and even adult-onset dementia; they progress more as the disease progresses (Farlow, et al., Nov. 1989). This paper will give background information on GSS and why it’s such a rare disease.
Gerstmann-Straussler-Scheinker Disease (GSS) is an extremely rare neurogenetic brain disorder. It is always inherited and is found in only a few families all over the world (NINDS ¶ 1). The trait is an autosomal dominant trait, caused by a gene mutation. It is also in a group of heredity prion protein diseases or also known as TSE’s. Many symptoms are associated with GSS like progressive ataxia, pyramidal signs, and even adult-onset dementia; they progress more as the disease progresses (Farlow, et al., Nov. 1989).


==Eponym==
==Eponym==
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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.<ref name="pmid16769939">{{cite journal |author=Arata H, Takashima H, Hirano R, ''et al.'' |title=Early clinical signs and imaging findings in Gerstmann–Sträussler–Scheinker syndrome (Pro102Leu) |journal=Neurology |volume=66 |issue=11 |pages=1672–8 |year=2006 |month=June |pmid=16769939 |doi=10.1212/01.wnl.0000218211.85675.18 |url=http://www.neurology.org/cgi/pmidlookup?view=long&pmid=16769939}}</ref> Therefore, it appears this [[genetics|genetic]] change is usually required for the development of the disease.
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.<ref name="pmid16769939">{{cite journal |author=Arata H, Takashima H, Hirano R, ''et al.'' |title=Early clinical signs and imaging findings in Gerstmann–Sträussler–Scheinker syndrome (Pro102Leu) |journal=Neurology |volume=66 |issue=11 |pages=1672–8 |year=2006 |month=June |pmid=16769939 |doi=10.1212/01.wnl.0000218211.85675.18 |url=http://www.neurology.org/cgi/pmidlookup?view=long&pmid=16769939}}</ref> Therefore, it appears this [[genetics|genetic]] change is usually required for the development of the disease.

==History==
GSS is a disease that’s very rare making its history hard to track exactly where it descended from. Gerstmann-Straussler-Scheinker syndrome (GSS) were first described as neurodegenerative diseases in the 1920s (Elsevier Science, 2002). Gerstmann-Straussler-Scheinker (GSS) is called this because it was first reported in 1936 by Josef Gerstmann, Ernst Straussler and Ilya Scheinker. They were all German doctors who were specialized in prion protein diseases.
In 1989, the first mutation of the prion protein gene was identified in a GSS family (Elsevier Science, 2002). Prion diseases (transmissible spongiform encephalopathies) are rare degenerative diseases of the brain thought to be caused by a protein that converts to an abnormal form called a prion (Gambetti Pierluigi, 2013). GSS was later realized to have many different gene mutation types some showing different symptoms first or having other symptoms be worse than others. Doctors in different parts of the world are recovering more generations and families that have the mutation. It is hard to discover GSS for two main reasons: (1) the disease has been reported in only a few countries; and (2) the disease the disease may be underreported due to its clinical similarity to other diseases (Ghetti B, et.al., 2003). The Indiana Kindred is the largest spanning over 8 generations, and includes over 3,000 people with 57 individuals known to be affected (B. Ghetti, et al., 1996).


==Symptoms==
==Symptoms==

Revision as of 17:11, 17 April 2013

Gerstmann–Sträussler–Scheinker syndrome
SpecialtyNeurology Edit this on Wikidata

Gerstmann–Sträussler–Scheinker syndrome (GSS) is a very rare, usually familial, fatal neurodegenerative disease that affects patients from 20 to 60 years in age.[citation needed] 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.[citation needed]

Familial cases are associated with autosomal dominant inheritance.[1] Gerstmann-Straussler-Scheinker Disease (GSS) is an extremely rare neurogenetic brain disorder. It is always inherited and is found in only a few families all over the world (NINDS ¶ 1). The trait is an autosomal dominant trait, caused by a gene mutation. It is also in a group of heredity prion protein diseases or also known as TSE’s. Many symptoms are associated with GSS like progressive ataxia, pyramidal signs, and even adult-onset dementia; they progress more as the disease progresses (Farlow, et al., Nov. 1989).

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.

History

GSS is a disease that’s very rare making its history hard to track exactly where it descended from. Gerstmann-Straussler-Scheinker syndrome (GSS) were first described as neurodegenerative diseases in the 1920s (Elsevier Science, 2002). Gerstmann-Straussler-Scheinker (GSS) is called this because it was first reported in 1936 by Josef Gerstmann, Ernst Straussler and Ilya Scheinker. They were all German doctors who were specialized in prion protein diseases. In 1989, the first mutation of the prion protein gene was identified in a GSS family (Elsevier Science, 2002). Prion diseases (transmissible spongiform encephalopathies) are rare degenerative diseases of the brain thought to be caused by a protein that converts to an abnormal form called a prion (Gambetti Pierluigi, 2013). GSS was later realized to have many different gene mutation types some showing different symptoms first or having other symptoms be worse than others. Doctors in different parts of the world are recovering more generations and families that have the mutation. It is hard to discover GSS for two main reasons: (1) the disease has been reported in only a few countries; and (2) the disease the disease may be underreported due to its clinical similarity to other diseases (Ghetti B, et.al., 2003). The Indiana Kindred is the largest spanning over 8 generations, and includes over 3,000 people with 57 individuals known to be affected (B. Ghetti, et al., 1996).

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] Extrapyramidal and pyramidal symptoms and signs may occur and the disease may mimic spinocerebellar ataxias at the beginning. Myoclonus, spasmodic muscle contraction, is less frequently seen than in CJD. 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.[6] GSS is the slowest to progress among human prion diseases. Duration of illness can range from 3 months to 13 years, with an average duration of 5 or 6 years.[5]

Notes

  1. ^ De Michele G, Pocchiari M, Petraroli R; et al. (2003). "Variable phenotype in a P102L Gerstmann–Sträussler–Scheinker Italian family". Can J Neurol Sci. 30 (3): 233–6. PMID 12945948. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  2. ^ synd/2269 at Who Named It?
  3. ^ Gerstmann, J.; Sträussler, E.; Scheinker, I. (1936). "Über eine eigenartige hereditär-familiäre Erkrankung des Zentralnervensystems. Zugleich ein Beitrag zur Frage des vorzeitigen lokalen Alterns". Zeitschrift für die gesamte Neurologie und Psychiatrie. 154: 736–762.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  4. ^ Arata H, Takashima H, Hirano R; et al. (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. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  5. ^ a b c Collins S, McLean CA, Masters CL (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. doi:10.1054/jocn.2001.0919. PMID 11535002. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  6. ^ a b Gambetti, Pierluigi. "Gerstmann-Sträussler-Scheinker Disease". The Merck Manuals: Online Medical Library. Retrieved 4/6/11. {{cite web}}: Check date values in: |accessdate= (help)
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