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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
A case of gerstmann-sträussler-scheinker disease
Min Jeong Park1, Hee Young Jo, Sang-Myung Cheon
1Department of Neurology, Bongseng Memorial Hospital, Busan, Korea.
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 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.
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