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Gerstmann-Sträussler-Scheinker syndrome with unexpected concomitant GRN variant: case report

Matyas Sykora1,2,3, Bibiana Krenkova4, Eva Parobkova1,3

  • 1Department of Pathology and Molecular Medicine, Third Faculty of Medicine, Charles University and Thomayer University Hospital, Prague, Czechia.

Frontiers in Neuroscience
|July 28, 2026
PubMed
Summary

This case study reports a rare Gerstmann-Sträussler-Scheinker syndrome (GSS) patient with a PRNP P102L variant and an unpenetrated GRN p.R110X variant. The findings highlight diagnostic complexity in neurodegenerative disorders.

Keywords:
Gerstmann-Sträussler-Scheinker syndromeTMEM106Bcase reportprionprogranulin genevariant

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