A Case of Gerstmann-Straussler-Scheinker Disease
Journal of Clinical Neurology
; : 46-50, 2010.
Article
in En
| WPRIM
| ID: wpr-57287
Responsible library:
WPRO
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.
Key words
Full text:
1
Database:
WPRIM
Main subject:
Codon
/
Cerebral Cortex
/
Gerstmann-Straussler-Scheinker Disease
/
Prion Diseases
/
Dementia
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Dysarthria
/
Gait
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Korea
Limits:
Female
/
Humans
Country/Region as subject:
Asia
Language:
En
Journal:
Journal of Clinical Neurology
Year:
2010
Document type:
Article