A Case of Gerstmann-Sträussler-Scheinker Disease
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Background Gerstmann-Sträussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy (TSE) that is determined genetically. Case Report A 46-year-old woman presented with a slowly progressive ataxic gait and cognitive decline. She was alert but did not cooperate well due to severe dementia and dysarthria. High signal intensities in the cerebral cortices were evident in MRI, especially in diffusionweighted images (DWI). A prion protein gene (PRNP) analysis revealed a P102L (proline-toleucine) mutation in codon 102. Conclusions This is the first reported case of GSS (confirmed by PRNP analysis) in Korea. Distinctive MRI findings are also presented.
Abstract
Background Gerstmann-Sträussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy (TSE) that is determined genetically. Case Report A 46-year-old woman presented with a slowly progressive ataxic gait and cognitive decline. She was alert but did not cooperate well due to severe dementia and dysarthria. High signal intensities in the cerebral cortices were evident in MRI, especially in diffusionweighted images (DWI). A prion protein gene (PRNP) analysis revealed a P102L (proline-toleucine) mutation in codon 102. Conclusions This is the first reported case of GSS (confirmed by PRNP analysis) in Korea. Distinctive MRI findings are also presented.
참고문헌 (15)
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