High phenotypic variability in Gerstmann-Sträussler-Scheinker disease

High phenotypic variability in Gerstmann-Sträussler-Scheinker disease

ABSTRACT 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 we...

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Main Authors: Jerusa Smid, Adalberto Studart Neto, Michele Christine Landemberger, Cleiton Fagundes Machado, Paulo Ribeiro Nóbrega, Nathalie Henriques Silva Canedo, Rodrigo Rizek Schultz, Michel Satya Naslavsky, Sérgio Rosemberg, Fernando Kok, Leila Chimelli, Vilma Regina Martins, Ricardo Nitrini
Format: Article
Language:English
Published: Thieme Revinter Publicações
Series:Arquivos de Neuro-Psiquiatria
Subjects:
doença de Gerstmann-Sträussler-Scheinker
doenças de prion
príons
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017000600331&lng=en&tlng=en
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