Open AccessG erstmann‐ S träussler‐ S cheinker Syndrome with Variable Phenotype in a New Kindred with PRNP ‐ P102L Mutation
Author(s) -
Riudavets Miguel A.,
Sraka María Alejandra,
Schultz Marcelo,
Rojas Estefanía,
Martinetto Horacio,
Begué Christian,
Halac Inés Noher,
Poleggi Anna,
Equestre Michele,
Pocchiari Maurizio,
Sevlever Gustavo,
Taratuto Ana Lía
Publication year - 2014
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/bpa.12083
Subject(s) - neuropathology , phenotype , frontotemporal dementia , prnp , mutation , biology , genetics , gene , point mutation , medicine , disease , dementia , genotype , pathology
G erstmann‐ S träussler‐ S cheinker 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 A rgentine 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 P ro to L eu 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.