Spino-Cerebello-Cerebral Degeneration with Amyloid Plaques (Gerstmann, Sträussler, Scheinker Syndrome)
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چکیده
منابع مشابه
A Case of Gerstmann-Sträussler-Scheinker Disease
BACKGROUND Gerstmann-Sträussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy (TSE) that is determined genetically. CASE REPORT A 46-year-old woman presented with a slowly progressive ataxic gait and cognitive decline. She was alert but did not cooperate well due to severe dementia and dysarthria. High signal intensities in the cerebral cortices were evide...
متن کاملNeurotoxic and gliotrophic activity of a synthetic peptide homologous to Gerstmann-Sträussler-Scheinker disease amyloid protein.
Amyloid fibrils in Gerstmann-Sträussler-Scheinker (GSS) disease are composed of a fragment of the prion protein (PrP), the N and C termini of which correspond to ragged residues 81-90 and 144-153. A synthetic peptide spanning the sequence 82-146 (PrP 82-146) polymerizes into protease-resistant fibrils with the tinctorial properties of amyloid. We investigated the biological activity of PrP 82-1...
متن کاملNeurofibrillary tangles in Gerstmann-Sträussler-Scheinker syndrome with the A117V prion gene mutation.
One patient of a French family with Gerstmann-Sträussler-Scheinker syndrome with the mutation in codon 117 of the prion protein (PrP) gene displayed unexpected neuritic degeneration around PrP plaques and numerous diffuse neurofibrillary tangles, whereas other members did not. The tau profile in this patient's brain was analysed and compared with one from another member of the Gerstmann-Sträuss...
متن کاملVariable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family.
BACKGROUND Gerstmann-Sträussler-Scheinker disease is an autosomal dominant prion disease. The clinical features include ataxia, dementia, spastic paraparesis and extrapyramidal signs. METHODS We report a new large Italian family affected by Gerstmann-Sträussler-Scheinker disease. RESULTS The four generation pedigree includes 11 patients. The mean age at onset +/- SD was 41.4 +/- 16.2 years....
متن کاملHigh phenotypic variability in Gerstmann-Sträussler-Scheinker disease.
Gerstmann-Sträussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu. Marked differences among patients were observed regarding age at onset, disease duration and clinical presentation. In the first kindred, two ...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 1982
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s031716710004436x