GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME
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]
Pathophysiology
Multicentric amyloid plaques in the brain's cerebral cortex, basal ganglia, cerebellum, and other areas are indicative of glioblastoma-related syndromes (GSS). While prevalent, speziform degeneration is not always evident. Brains from various kinds have been shown to have neurofibrillary tangles and neuropil threads, which are the same as those observed in Alzheimer's disease. Protease-resistant C- and N-terminally truncated fragments are a hallmark of Creutzfeldt-Jakob disease (CJD), although the biochemical characteristics of prion protein (PrP) are different.[3]
Causes
Differentiating Gerstmann-Sträussler-Scheinker syndromefrom other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
- ↑ Hsiao K. "Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome". PMID 2564168.
- ↑ Kretzschmar HA. "Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome". PMID 1348851. Check
|pmid=value (help). - ↑ Guiroy DC. "elationship of microglia and scrapie amyloid-immunoreactive plaques in kuru, Creutzfeldt-Jakob disease and Gerstmann-Sträussler syndrome". PMID 8059606. Check
|pmid=value (help).