GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
|||
| Line 9: | Line 9: | ||
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> | 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 syndromepathophysiology|Pathophysiology]]== | ==[[Gerstmann-Sträussler-Scheinker syndromepathophysiology|Pathophysiology]]== | ||
Revision as of 21:12, 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]