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Article

Gerstmann-Sträussler-Scheinker syndrome with variable phenotype in a new kindred with PRNP-P102L mutation.

Brain pathology (Zurich, Switzerland) - 1 Mar 2014

Riudavets Miguel A, Sraka María Alejandra, Schultz Marcelo, Rojas Estefanía, Martinetto Horacio, Begué Christian, Noher de Halac Inés, Poleggi Anna, Equestre Michele, Pocchiari Maurizio, Sevlever Gustavo, Taratuto Ana Lía

Abstract excerpt

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...

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Identifiers

PMID: 23944754
DOI: 10.1111/bpa.12083
PMCID: PMC8029128

Genes

GSS
PRNP

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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