J Clin Neurol.  2010 Mar;6(1):46-50. 10.3988/jcn.2010.6.1.46.

A Case of Gerstmann-Straussler-Scheinker Disease

• Park MJ
• Jo HY
• Cheon SM
• Choi SS
• Kim YS
• Kim JW

• KMID: 2135482
• DOI: http://doi.org/10.3988/jcn.2010.6.1.46

Abstract

BACKGROUND
Gerstmann-Straussler-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 diffusion-weighted images (DWI). A prion protein gene (PRNP) analysis revealed a P102L (proline-to-leucine) 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.

Keyword

Gerstmann-Straussler-Scheinker disease; transmissible spongiform encephalopathy; diffusion-weighted imaging

MeSH Terms

Cerebral Cortex
Codon
Dementia
Dysarthria
Female
Gait
Gerstmann-Straussler-Scheinker Disease
Humans
Korea
Middle Aged
Prion Diseases
Codon

Figure

• 

  Fig. 1 Serial MRI images of the patient. Widespread asymmetric cortical lesions with high signal intensities in FLAIR imaging and DWI were evident (A), and were more extended 5 months later (B). FLAIR: fluid attenuated inversion recovery, DWI: diffusion-weighted imaging.

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  Fig. 2 18F-FDG PET shows widespread asymmetric reduction of glucose metabolism in the cerebral cortical areas.

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  Fig. 3 Western blot analysis of CSF revealed the presence of 14-3-3 protein. Lane 1: CSF CJD Positive, Lane 2: CSF (Patient), Lane 3: CSF (Positive), Lane 4: CSF (Negative), Lane 5: CSF (Negative), CJD: Creutzfeldt-Jakob disease.

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  Fig. 4 Sequencing data of PRNP. Arrow indicates a proline (CCG)-to-leucine (CTG) mutation in codon 102. PRNP: prion protein gene.

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