Gerstmann-Sträussler-Scheinker syndrome with variable phenotype in a new kindred with PRNP-P102L mutation.
Gerstmann-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.
Department of Neuropathology, Institute for Neurological Research, FLENI, Buenos Aires, Argentina.
Miguel A
MA
Riudavets
María Alejandra
MA
Sraka
Marcelo
M
Schultz
Estefanía
E
Rojas
Horacio
H
Martinetto
Christian
C
Begué
Inés
I
Noher de Halac
Anna
A
Poleggi
Michele
M
Equestre
Maurizio
M
Pocchiari
Gustavo
G
Sevlever
Ana Lía
AL
Taratuto
D000328:Adult; D001921:Brain / Q000473:pathology; D005260:Female; D016098:Gerstmann-Straussler-Scheinker Disease / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*
C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions
Argentina; Gerstmann-Sträussler-Scheinker; P102L; ataxia; variable phenotype