Artículos de revistas
Gerstmann-Sträussler-Scheinker syndrome in an Argentinean family due to mutationat codon 117 of the Prion Protein Gene (PrPA117V)
Fecha
2016-05Registro en:
Sáenz Farret, Michel; Ramírez Gómez, Carolina Candelaria; Aráoz Olivos, Natalia Silvana; Carrillo Canedo, Heidi; Aldinio, Victoria; et al.; Gerstmann-Sträussler-Scheinker syndrome in an Argentinean family due to mutationat codon 117 of the Prion Protein Gene (PrPA117V); Elsevier; Journal of the Neurological Sciences; 364; 5-2016; 50-52
0022-510X
Autor
Sáenz Farret, Michel
Ramírez Gómez, Carolina Candelaria
Aráoz Olivos, Natalia Silvana
Carrillo Canedo, Heidi
Aldinio, Victoria
Montilla Uzcategui, Verónica Gisela
Kauffman, Marcelo Andres
Micheli, Federico
Resumen
Prion Diseases or Transmissible Spongiform Encephalopathies (TSEs) constitute rare neurodegenerative diseases, the most common being Creutzfeldt–Jakob disease (CJD). Fifteen percent (15%) of the cases worldwide are considered to be of the familial type and the remainder (85%) present as a sporadic disorder (sCJD) [1]. The familial (or genetic) type includes: genetic CJD (gCJD), fatal familial insomnia (FFI), and Gerstmann–Sträussler–Scheinker syndrome (GSS) [2]. Here we present the clinical findings of an Argentinean family with GSS due to mutation at codon 117 of the prion protein gene (PrPA117V), the first in Argentina and in Latin America.