Artículo
Gerstmann-Sträussler-Scheinker syndrome in an Argentinean family due to mutationat codon 117 of the Prion Protein Gene (PrPA117V)
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
Fecha de publicación:
05/2016
Editorial:
Elsevier
Revista:
Journal of the Neurological Sciences
ISSN:
0022-510X
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
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.
Palabras clave:
Neurogenetics
,
Dementia
,
Prion
,
Gerstmann–Sträussler–Scheinker
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Articulos(IBCN)
Articulos de INST.DE BIOLO.CEL.Y NEURCS."PROF.E.DE ROBERTIS"
Articulos de INST.DE BIOLO.CEL.Y NEURCS."PROF.E.DE ROBERTIS"
Citación
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
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