Gerstmann-Sträussler-Scheinker syndrome in an Argentinean family due to mutationat codon 117 of the Prion Protein Gene (PrPA117V).

SAENZ-FARRET M; RAMIREZ-GOMEZ CC; KAUFFMAN MARCELO; MICHELI F

JOURNAL OF THE NEUROLOGICAL SCIENCES

ELSEVIER SCIENCE BV

Lugar: Amsterdam; Año: 2016

0022-510X

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 re- mainder (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.