GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME: Difference between revisions

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{{CMG}};  {{VSRN}}
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==[[Gerstmann-Sträussler-Scheinker syndromeoverview|Overview]]==
==[[Gerstmann-Sträussler-Scheinker syndromeoverview|Epidemiology]]==
 
A rare inherited human prion illness called Gerstmann-Sträussler-Scheinker syndrome (GSS) affects 1 to 10 people out of every 100 million people annually.
 
The high penetrance autosomal-dominant pattern of GSS is inherited by a combination of insertion mutations in the octapeptide repeat and several point mutations. Around the world, at least 24 distinct kindreds have been recognized. P102L is the most prevalent mutation.<ref name="PMID: 2564168">{{cite journal |vauthors=Hsiao K,|title= Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome . |PMID=2564168 |url=}}</ref><ref name="PMID: 1348851.">{{cite journal |vauthors=Kretzschmar HA,|title= Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.  |PMID=1348851. |url=}}</ref>


==[[Gerstmann-Sträussler-Scheinker syndromehistorical perspective|Historical Perspective]]==
==[[Gerstmann-Sträussler-Scheinker syndromehistorical perspective|Historical Perspective]]==

Revision as of 21:11, 25 June 2024

Template:Gerstmann-Sträussler-Scheinker syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Rithish Nimmagadda,MBBS.[2]

Epidemiology

A rare inherited human prion illness called Gerstmann-Sträussler-Scheinker syndrome (GSS) affects 1 to 10 people out of every 100 million people annually.

The high penetrance autosomal-dominant pattern of GSS is inherited by a combination of insertion mutations in the octapeptide repeat and several point mutations. Around the world, at least 24 distinct kindreds have been recognized. P102L is the most prevalent mutation.[1][2]

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Gerstmann-Sträussler-Scheinker syndromefrom other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

  1. Hsiao K. "Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome". PMID 2564168.
  2. Kretzschmar HA. "Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome". PMID 1348851. Check |pmid= value (help).