A Case of Gerstmann-Straussler-Scheinker Disease.

Author: Min Jeong PARK ¹ ; Hee Young JO ; Sang Myung CHEON ; Sun Seob CHOI ; Yong Sun KIM ; Jae Woo KIM
Author Information

1. Department of Neurology, Bongseng Memorial Hospital, Busan, Korea.
Publication Type:Case Report
Keywords: Gerstmann-Straussler-Scheinker disease; transmissible spongiform encephalopathy; diffusion-weighted imaging
MeSH: Cerebral Cortex; Codon; Dementia; Dysarthria; Female; Gait; Gerstmann-Straussler-Scheinker Disease; Humans; Korea; Middle Aged; Prion Diseases
From:Journal of Clinical Neurology 2010;6(1):46-50
CountryRepublic of Korea
Language:English
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.