LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

High phenotypic variability in Gerstmann-Sträussler-Scheinker disease

Smid, Jerusa; Studart Neto, 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.

Arq. neuropsiquiatr; 75 (6), 2017

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 were o...

Encéfalo/patología, ADN, Enfermedad de Gerstmann-Straussler-Scheinker/genética, Enfermedad de Gerstmann-Straussler-Scheinker/patología, Mutación, Linaje, Fenotipo, Polimorfismo Genético, Priones/genética

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