GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME: Difference between revisions
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Created page with "__NOTOC__ {{Gerstmann-Sträussler-Scheinker syndrome}} {{CMG}}; {{VSRN}} ==Overview== ==Historical Perspective== ==Classification== ==Pathophysiology== ==Causes== ==Gerstmann-S..." |
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==[[Gerstmann-Sträussler-Scheinker syndromeoverview| | ==[[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]