• Miguel A Riudavets, María Alejandra Sraka, Marcelo Schultz, Estefanía Rojas, Horacio Martinetto, Christian Begué, Inés Noher de Halac, Anna Poleggi, Michele Equestre, Maurizio Pocchiari, Gustavo Sevlever, ... more and Ana Lía Taratuto. less
• Department of Neuropathology, Institute for Neurological Research, FLENI, Buenos Aires, Argentina.
• Brain Pathol. 2014 Mar 1; 24 (2): 142-7.

AbstractGerstmann-Sträussler-Scheinker syndrome (GSS) is a dominantly inherited disorder belonging to the group of transmissible human spongiform encephalopathies or prion diseases. Several families affected by GSS with patients carrying mutations in the prion protein gene have been described worldwide. We report clinical, genealogical, neuropathology and molecular study results from two members of the first Argentine kindred affected by GSS. Both family members presented a frontotemporal-like syndrome, one with and the other without ataxia, with different lesions on neuropathology. A Pro to Leu point mutation at codon 102 (P102L) of the prion protein gene was detected in one of the subjects studied. The pathogenic basis of phenotypic variability observed in this family remains unclear, but resembles that observed in other P102L GSS patients from the same family. © 2013 International Society of Neuropathology.

18 keywords...

hide…