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Article

High phenotypic variability in Gerstmann-Sträussler-Scheinker disease.

Arquivos de neuro-psiquiatria - 1 Jun 2017

Smid Jerusa, Studart Adalberto, Landemberger Michele Christine, Machado Cleiton Fagundes, Nóbrega Paulo Ribeiro, Canedo Nathalie Henriques Silva, Schultz Rodrigo Rizek, Naslavsky Michel Satya, Rosemberg Sérgio, Kok Fernando, Chimelli Leila, Martins Vilma Regina, Nitrini Ricardo

Abstract excerpt

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 patients had...

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PMID: 28658400
DOI: 10.1590/0004-282X20170049

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